{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374377338", "communityStandardTitle": [ "NM_001079802.2(FKTN):c.897T>A (p.Ser299Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108377675T>A?assembly=hg19", "id": "chr9:g.108377675T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.105615394T>A?assembly=hg38", "id": "chr9:g.105615394T>A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 105615394, "referenceAllele": "T", "start": 105615393 } ], "hgvs": [ "NC_000009.12:g.105615394T>A", "CM000671.2:g.105615394T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 108377675, "referenceAllele": "T", "start": 108377674 } ], "hgvs": [ "NC_000009.11:g.108377675T>A", "CM000671.1:g.108377675T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 107417496, "referenceAllele": "T", "start": 107417495 } ], "hgvs": [ "NC_000009.10:g.107417496T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 62265, "referenceAllele": "T", "start": 62264 } ], "hgvs": [ "NG_008754.1:g.62265T>A", "LRG_434:g.62265T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001201" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "T", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000357998.10:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000350687.6:p.Ser299Arg", "hgvsWellDefined": "ENSP00000350687.6:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.897T>A" }, "RefSeq": { "hgvs": "NM_001079802.2:c.897T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Ser299Arg" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Ser299Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.6:c.*505T>A" ], "proteinEffect": { "hgvs": "ENSP00000473540.2:n.*505T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS761578" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642177.1:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000495864.1:p.Ser299Arg", "hgvsWellDefined": "ENSP00000495864.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766599" }, { "coordinates": [ { "allele": "A", "end": 1120, "referenceAllele": "T", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642537.1:c.*759T>A" ], "proteinEffect": { "hgvs": "ENSP00000495945.1:n.*759T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766800" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "T", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642644.1:c.*1020T>A" ], "proteinEffect": { "hgvs": "ENSP00000494674.1:n.*1020T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766857" }, { "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "T", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642952.1:c.922T>A" ], "proteinEffect": { "hgvs": "ENSP00000493886.1:n.922T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767008" }, { "coordinates": [ { "allele": "A", "end": 1094, "referenceAllele": "T", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000645933.1:c.*895T>A" ], "proteinEffect": { "hgvs": "ENSP00000495852.1:n.*895T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768613" }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "T", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000674563.1:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000502153.1:p.Ser299Arg", "hgvsWellDefined": "ENSP00000502153.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774513" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000674633.1:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000502164.1:p.Ser299Arg", "hgvsWellDefined": "ENSP00000502164.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774572" }, { "coordinates": [ { "allele": "A", "end": 1247, "referenceAllele": "T", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675668.1:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000502113.1:p.Ser299Arg", "hgvsWellDefined": "ENSP00000502113.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS775457" }, { "coordinates": [ { "allele": "A", "end": 996, "endIntronDirection": "-", "endIntronOffset": 4539, "referenceAllele": "T", "start": 996, "startIntronDirection": "-", "startIntronOffset": 4540 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675695.1:c.781-4540T>A" ], "proteinEffect": { "hgvs": "ENSP00000502460.1:n.781-4540T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775481" }, { "coordinates": [ { "allele": "A", "end": 2496, "referenceAllele": "T", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675736.1:c.*505T>A" ], "proteinEffect": { "hgvs": "ENSP00000502809.1:n.*505T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775515" }, { "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "T", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676011.1:n.2061T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775753" }, { "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676310.1:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000501585.1:p.Ser299Arg", "hgvsWellDefined": "ENSP00000501585.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS776009" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "T", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676371.1:c.*704T>A" ], "proteinEffect": { "hgvs": "ENSP00000501556.1:n.*704T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776061" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000223528.6:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000223528.2:p.Ser299Arg", "hgvsWellDefined": "ENSP00000223528.2:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS248453" }, { "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "T", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000357998.9:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000350687.5:p.Ser299Arg", "hgvsWellDefined": "ENSP00000350687.5:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264296" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000448551.6:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000399140.2:p.Ser299Arg", "hgvsWellDefined": "ENSP00000399140.2:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS299790" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "T", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602526.1:c.*935T>A" ], "proteinEffect": { "hgvs": "ENSP00000473347.1:n.*935T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS398226" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.5:c.897T>A" ], "proteinEffect": { "hgvs": "ENSP00000473540.1:p.Ser299Arg", "hgvsWellDefined": "ENSP00000473540.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS398289" }, { "@id": "http://reg.genome.network/allele/PA2825459116", "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.1:c.897T>A", "LRG_434t1:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Ser299Arg", "hgvsWellDefined": "NP_001073270.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010087" }, { "@id": "http://reg.genome.network/allele/PA2826231115", "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.1:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Ser299Arg", "hgvsWellDefined": "NP_001185892.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016930" }, { "@id": "http://reg.genome.network/allele/PA645481319", "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_006731.2:c.897T>A", "LRG_434t2:c.897T>A" ], "proteinEffect": { "hgvs": "NP_006722.2:p.Ser299Arg", "hgvsWellDefined": "NP_006722.2:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS031718" }, { "coordinates": [ { "allele": "A", "end": 908, "endIntronDirection": "+", "endIntronOffset": 7443, "referenceAllele": "T", "start": 908, "startIntronDirection": "+", "startIntronOffset": 7442 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_006717014.2:c.780+7443T>A" ], "proteinEffect": { "hgvs": "XP_006717077.1:n.780+7443T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS071949" }, { "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "T", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518368.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516670.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516670.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085542" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518369.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516671.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516671.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085543" }, { "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "T", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518370.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516672.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516672.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085544" }, { "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "T", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518371.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516673.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516673.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085545" }, { "coordinates": [ { "allele": "A", "end": 1661, "referenceAllele": "T", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518372.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516674.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516674.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085546" }, { "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "T", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518373.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516675.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516675.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085547" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "T", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518374.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516676.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516676.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085548" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518375.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516677.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516677.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085549" }, { "coordinates": [ { "allele": "A", "end": 1144, "referenceAllele": "T", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518376.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516678.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516678.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085550" }, { "coordinates": [ { "allele": "A", "end": 1256, "referenceAllele": "T", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518377.1:c.894T>A" ], "proteinEffect": { "hgvs": "XP_011516679.1:p.Ser298Arg", "hgvsWellDefined": "XP_011516679.1:p.Ser298Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085551" }, { "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "T", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516680.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085552" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "T", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518379.1:c.828T>A" ], "proteinEffect": { "hgvs": "XP_011516681.1:p.Ser276Arg", "hgvsWellDefined": "XP_011516681.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085553" }, { "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "T", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518380.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516682.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516682.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085554" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "T", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518381.1:c.711T>A" ], "proteinEffect": { "hgvs": "XP_011516683.1:p.Ser237Arg", "hgvsWellDefined": "XP_011516683.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085555" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "T", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518382.1:c.711T>A" ], "proteinEffect": { "hgvs": "XP_011516684.1:p.Ser237Arg", "hgvsWellDefined": "XP_011516684.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085556" }, { "coordinates": [ { "allele": "A", "end": 1466, "referenceAllele": "T", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518383.1:c.711T>A" ], "proteinEffect": { "hgvs": "XP_011516685.1:p.Ser237Arg", "hgvsWellDefined": "XP_011516685.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085557" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "T", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518384.1:c.711T>A" ], "proteinEffect": { "hgvs": "XP_011516686.1:p.Ser237Arg", "hgvsWellDefined": "XP_011516686.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085558" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "T", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518385.1:c.711T>A" ], "proteinEffect": { "hgvs": "XP_011516687.1:p.Ser237Arg", "hgvsWellDefined": "XP_011516687.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085559" }, { "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "T", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518386.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516688.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516688.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085560" }, { "coordinates": [ { "allele": "A", "end": 1142, "endIntronDirection": "-", "endIntronOffset": 4539, "referenceAllele": "T", "start": 1142, "startIntronDirection": "-", "startIntronOffset": 4540 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518387.1:c.781-4540T>A" ], "proteinEffect": { "hgvs": "XP_011516689.1:n.781-4540T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS085561" }, { "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "T", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518388.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516690.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516690.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085562" }, { "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "T", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518389.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516691.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516691.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085563" }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "T", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518390.1:c.501T>A" ], "proteinEffect": { "hgvs": "XP_011516692.1:p.Ser167Arg", "hgvsWellDefined": "XP_011516692.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085564" }, { "coordinates": [ { "allele": "A", "end": 1142, "endIntronDirection": "+", "endIntronOffset": 7443, "referenceAllele": "T", "start": 1142, "startIntronDirection": "+", "startIntronOffset": 7442 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.1:c.780+7443T>A" ], "proteinEffect": { "hgvs": "XP_011516693.1:n.780+7443T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS085565" }, { "@id": "http://reg.genome.network/allele/PA2827611641", "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "T", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.1:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Ser299Arg", "hgvsWellDefined": "NP_001338425.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520259" }, { "@id": "http://reg.genome.network/allele/PA2827612089", "coordinates": [ { "allele": "A", "end": 1346, "referenceAllele": "T", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.1:c.828T>A" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Ser276Arg", "hgvsWellDefined": "NP_001338426.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520260" }, { "@id": "http://reg.genome.network/allele/PA2827612630", "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.1:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Ser299Arg", "hgvsWellDefined": "NP_001338427.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520261" }, { "@id": "http://reg.genome.network/allele/PA2827612935", "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "T", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.1:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338428.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520262" }, { "@id": "http://reg.genome.network/allele/PA2827613306", "coordinates": [ { "allele": "A", "end": 1231, "referenceAllele": "T", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.1:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338429.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520263" }, { "@id": "http://reg.genome.network/allele/PA2827613677", "coordinates": [ { "allele": "A", "end": 1139, "referenceAllele": "T", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.1:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338430.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520264" }, { "@id": "http://reg.genome.network/allele/PA2827613962", "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "T", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.1:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338431.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS520265" }, { "coordinates": [ { "allele": "A", "end": 996, "endIntronDirection": "-", "endIntronOffset": 4539, "referenceAllele": "T", "start": 996, "startIntronDirection": "-", "startIntronOffset": 4540 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.1:n.997-4540T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530753" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.1:n.1021T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530754" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518368.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516670.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516670.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544884" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518369.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516671.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516671.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544885" }, { "coordinates": [ { "allele": "A", "end": 2797, "referenceAllele": "T", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518370.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516672.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516672.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544886" }, { "coordinates": [ { "allele": "A", "end": 1296, "referenceAllele": "T", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518371.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516673.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516673.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544887" }, { "coordinates": [ { "allele": "A", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518373.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516675.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516675.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544888" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "T", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518374.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516676.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516676.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544889" }, { "coordinates": [ { "allele": "A", "end": 1340, "referenceAllele": "T", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518375.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516677.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516677.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544890" }, { "coordinates": [ { "allele": "A", "end": 1163, "referenceAllele": "T", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518376.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516678.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516678.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544891" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.2:c.897T>A" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Ser299Arg", "hgvsWellDefined": "XP_011516680.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544892" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "T", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518379.2:c.828T>A" ], "proteinEffect": { "hgvs": "XP_011516681.1:p.Ser276Arg", "hgvsWellDefined": "XP_011516681.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544893" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "T", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518381.3:c.711T>A" ], "proteinEffect": { "hgvs": "XP_011516683.1:p.Ser237Arg", "hgvsWellDefined": "XP_011516683.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544894" }, { "coordinates": [ { "allele": "A", "end": 1144, "endIntronDirection": "-", "endIntronOffset": 4539, "referenceAllele": "T", "start": 1144, "startIntronDirection": "-", "startIntronOffset": 4540 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518387.2:c.781-4540T>A" ], "proteinEffect": { "hgvs": "XP_011516689.1:n.781-4540T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544895" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "T", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518390.2:c.501T>A" ], "proteinEffect": { "hgvs": "XP_011516692.1:p.Ser167Arg", "hgvsWellDefined": "XP_011516692.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544896" }, { "coordinates": [ { "allele": "A", "end": 1144, "endIntronDirection": "+", "endIntronOffset": 7443, "referenceAllele": "T", "start": 1144, "startIntronDirection": "+", "startIntronOffset": 7442 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.2:c.780+7443T>A" ], "proteinEffect": { "hgvs": "XP_011516693.1:n.780+7443T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544897" }, { "coordinates": [ { "allele": "A", "end": 1395, "referenceAllele": "T", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014462.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869951.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869951.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567427" }, { "coordinates": [ { "allele": "A", "end": 1484, "referenceAllele": "T", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014463.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869952.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869952.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567428" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014464.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869953.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869953.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567429" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014465.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869954.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869954.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567430" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014467.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869956.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869956.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567431" }, { "coordinates": [ { "allele": "A", "end": 1403, "referenceAllele": "T", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014468.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869957.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869957.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567432" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014469.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869958.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869958.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567433" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014470.1:c.897T>A" ], "proteinEffect": { "hgvs": "XP_016869959.1:p.Ser299Arg", "hgvsWellDefined": "XP_016869959.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567434" }, { "coordinates": [ { "allele": "A", "end": 1385, "referenceAllele": "T", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014472.2:c.711T>A" ], "proteinEffect": { "hgvs": "XP_016869961.1:p.Ser237Arg", "hgvsWellDefined": "XP_016869961.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567435" }, { "coordinates": [ { "allele": "A", "end": 3263, "referenceAllele": "T", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014473.2:c.711T>A" ], "proteinEffect": { "hgvs": "XP_016869962.1:p.Ser237Arg", "hgvsWellDefined": "XP_016869962.1:p.Ser237Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS567436" }, { "coordinates": [ { "allele": "A", "end": 911, "endIntronDirection": "-", "endIntronOffset": 4539, "referenceAllele": "T", "start": 911, "startIntronDirection": "-", "startIntronOffset": 4540 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014475.1:c.781-4540T>A" ], "proteinEffect": { "hgvs": "XP_016869964.1:n.781-4540T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567437" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746242.2:n.1261T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594595" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746243.2:n.1261T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594596" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746244.2:n.1261T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594597" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746245.1:n.1111T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594598" }, { "coordinates": [ { "allele": "A", "end": 2204, "referenceAllele": "T", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746248.1:n.2204T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594599" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_002956770.1:n.1111T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602908" }, { "@id": "http://reg.genome.network/allele/PA2825459116", "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "T", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.2:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Ser299Arg", "hgvsWellDefined": "NP_001073270.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676218", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.897T>A" }, "RefSeq": { "hgvs": "NM_001079802.2:c.897T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Ser299Arg" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Ser299Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826231115", "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "T", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.2:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Ser299Arg", "hgvsWellDefined": "NP_001185892.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679465" }, { "@id": "http://reg.genome.network/allele/PA2827611641", "coordinates": [ { "allele": "A", "end": 1247, "referenceAllele": "T", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.2:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Ser299Arg", "hgvsWellDefined": "NP_001338425.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688848" }, { "@id": "http://reg.genome.network/allele/PA2827612089", "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "T", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.2:c.828T>A" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Ser276Arg", "hgvsWellDefined": "NP_001338426.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688849" }, { "@id": "http://reg.genome.network/allele/PA2827612630", "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.2:c.897T>A" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Ser299Arg", "hgvsWellDefined": "NP_001338427.1:p.Ser299Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688850" }, { "@id": "http://reg.genome.network/allele/PA2827612935", "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "T", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.2:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338428.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688851" }, { "@id": "http://reg.genome.network/allele/PA2827613306", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "T", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338429.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688852" }, { "@id": "http://reg.genome.network/allele/PA2827613677", "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "T", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.2:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338430.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688853" }, { "@id": "http://reg.genome.network/allele/PA2827613962", "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "T", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.2:c.501T>A" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Ser167Arg", "hgvsWellDefined": "NP_001338431.1:p.Ser167Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS688854" }, { "coordinates": [ { "allele": "A", "end": 995, "endIntronDirection": "-", "endIntronOffset": 4539, "referenceAllele": "T", "start": 995, "startIntronDirection": "-", "startIntronOffset": 4540 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.996-4540T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.1020T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }