{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374378022", "communityStandardTitle": [ "NM_001079802.2(FKTN):c.1183C>G (p.Pro395Ala)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108397342C>G?assembly=hg19", "id": "chr9:g.108397342C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.105635061C>G?assembly=hg38", "id": "chr9:g.105635061C>G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 105635061, "referenceAllele": "C", "start": 105635060 } ], "hgvs": [ "NC_000009.12:g.105635061C>G", "CM000671.2:g.105635061C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 108397342, "referenceAllele": "C", "start": 108397341 } ], "hgvs": [ "NC_000009.11:g.108397342C>G", "CM000671.1:g.108397342C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 107437163, "referenceAllele": "C", "start": 107437162 } ], "hgvs": [ "NC_000009.10:g.107437163C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 81932, "referenceAllele": "C", "start": 81931 } ], "hgvs": [ "NG_008754.1:g.81932C>G", "LRG_434:g.81932C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001201" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000357998.10:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000350687.6:p.Pro395Ala", "hgvsWellDefined": "ENSP00000350687.6:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS749015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.1183C>G" }, "RefSeq": { "hgvs": "NM_001079802.2:c.1183C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Pro395Ala" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Pro395Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.6:c.*791C>G" ], "proteinEffect": { "hgvs": "ENSP00000473540.2:n.*791C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS761578" }, { "coordinates": [ { "allele": "G", "end": 1617, "referenceAllele": "C", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642177.1:c.*398C>G" ], "proteinEffect": { "hgvs": "ENSP00000495864.1:n.*398C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766599" }, { "coordinates": [ { "allele": "G", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642537.1:c.*1451C>G" ], "proteinEffect": { "hgvs": "ENSP00000495945.1:n.*1451C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766800" }, { "coordinates": [ { "allele": "G", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000642952.1:c.1523C>G" ], "proteinEffect": { "hgvs": "ENSP00000493886.1:n.1523C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767008" }, { "coordinates": [ { "allele": "G", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000644273.1:c.466C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767736" }, { "coordinates": [ { "allele": "G", "end": 1695, "referenceAllele": "C", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000645933.1:c.*1496C>G" ], "proteinEffect": { "hgvs": "ENSP00000495852.1:n.*1496C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768613" }, { "coordinates": [ { "allele": "G", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000674563.1:c.*164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502153.1:n.*164C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774513" }, { "coordinates": [ { "allele": "G", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000674633.1:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000502164.1:p.Pro395Ala", "hgvsWellDefined": "ENSP00000502164.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS774572" }, { "coordinates": [ { "allele": "G", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675695.1:c.*164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502460.1:n.*164C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS775481" }, { "coordinates": [ { "allele": "G", "end": 2954, "referenceAllele": "C", "start": 2953 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000675736.1:c.*963C>G" ], "proteinEffect": { "hgvs": "ENSP00000502809.1:n.*963C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS775515" }, { "coordinates": [ { "allele": "G", "end": 2547, "referenceAllele": "C", "start": 2546 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676011.1:n.2547C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775753" }, { "coordinates": [ { "allele": "G", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000676310.1:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000501585.1:p.Pro395Ala", "hgvsWellDefined": "ENSP00000501585.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776009" }, { "coordinates": [ { "allele": "G", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000223528.6:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000223528.2:p.Pro395Ala", "hgvsWellDefined": "ENSP00000223528.2:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS248453" }, { "coordinates": [ { "allele": "G", "end": 1299, "referenceAllele": "C", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000357998.9:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000350687.5:p.Pro395Ala", "hgvsWellDefined": "ENSP00000350687.5:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS264296" }, { "coordinates": [ { "allele": "G", "end": 1397, "referenceAllele": "C", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000448551.6:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000399140.2:p.Pro395Ala", "hgvsWellDefined": "ENSP00000399140.2:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS299790" }, { "coordinates": [ { "allele": "G", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000457847.1:c.273C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS304141" }, { "coordinates": [ { "allele": "G", "end": 1457, "referenceAllele": "C", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602526.1:c.*1221C>G" ], "proteinEffect": { "hgvs": "ENSP00000473347.1:n.*1221C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS398226" }, { "coordinates": [ { "allele": "G", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.5:c.1183C>G" ], "proteinEffect": { "hgvs": "ENSP00000473540.1:p.Pro395Ala", "hgvsWellDefined": "ENSP00000473540.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS398289" }, { "coordinates": [ { "allele": "G", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.1:c.1183C>G", "LRG_434t1:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Pro395Ala", "hgvsWellDefined": "NP_001073270.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010087" }, { "coordinates": [ { "allele": "G", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.1:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Pro395Ala", "hgvsWellDefined": "NP_001185892.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS016930" }, { "coordinates": [ { "allele": "G", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_006731.2:c.1183C>G", "LRG_434t2:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_006722.2:p.Pro395Ala", "hgvsWellDefined": "NP_006722.2:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS031718" }, { "coordinates": [ { "allele": "G", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_006717014.2:c.791C>G" ], "proteinEffect": { "hgvs": "XP_006717077.1:p.Ser264Cys", "hgvsWellDefined": "XP_006717077.1:p.Ser264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071949" }, { "coordinates": [ { "allele": "G", "end": 1748, "referenceAllele": "C", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.1:c.1386C>G" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Phe462Leu", "hgvsWellDefined": "XP_011516680.1:p.Phe462Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085552" }, { "coordinates": [ { "allele": "G", "end": 1867, "referenceAllele": "C", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518380.1:c.*122C>G" ], "proteinEffect": { "hgvs": "XP_011516682.1:n.*122C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085554" }, { "coordinates": [ { "allele": "G", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518386.1:c.1214C>G" ], "proteinEffect": { "hgvs": "XP_011516688.1:p.Ser405Cys", "hgvsWellDefined": "XP_011516688.1:p.Ser405Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS085560" }, { "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.1:c.791C>G" ], "proteinEffect": { "hgvs": "XP_011516693.1:p.Ser264Cys", "hgvsWellDefined": "XP_011516693.1:p.Ser264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS085565" }, { "coordinates": [ { "allele": "G", "end": 1534, "referenceAllele": "C", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.1:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Pro395Ala", "hgvsWellDefined": "NP_001338425.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS520259" }, { "coordinates": [ { "allele": "G", "end": 1632, "referenceAllele": "C", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.1:c.1114C>G" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Pro372Ala", "hgvsWellDefined": "NP_001338426.1:p.Pro372Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS520260" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.1:c.1214C>G" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Ser405Cys", "hgvsWellDefined": "NP_001338427.1:p.Ser405Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS520261" }, { "coordinates": [ { "allele": "G", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.1:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338428.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS520262" }, { "coordinates": [ { "allele": "G", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.1:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338429.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS520263" }, { "coordinates": [ { "allele": "G", "end": 1425, "referenceAllele": "C", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.1:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338430.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS520264" }, { "coordinates": [ { "allele": "G", "end": 1745, "referenceAllele": "C", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.1:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338431.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS520265" }, { "coordinates": [ { "allele": "G", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.1:n.1307C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530753" }, { "coordinates": [ { "allele": "G", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.1:n.1479C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530754" }, { "coordinates": [ { "allele": "G", "end": 1750, "referenceAllele": "C", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.2:c.1386C>G" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Phe462Leu", "hgvsWellDefined": "XP_011516680.1:p.Phe462Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544892" }, { "coordinates": [ { "allele": "G", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.2:c.791C>G" ], "proteinEffect": { "hgvs": "XP_011516693.1:p.Ser264Cys", "hgvsWellDefined": "XP_011516693.1:p.Ser264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS544897" }, { "coordinates": [ { "allele": "G", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014464.1:c.1183C>G" ], "proteinEffect": { "hgvs": "XP_016869953.1:p.Pro395Ala", "hgvsWellDefined": "XP_016869953.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS567429" }, { "coordinates": [ { "allele": "G", "end": 1397, "referenceAllele": "C", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014465.1:c.1183C>G" ], "proteinEffect": { "hgvs": "XP_016869954.1:p.Pro395Ala", "hgvsWellDefined": "XP_016869954.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS567430" }, { "coordinates": [ { "allele": "G", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014467.1:c.1183C>G" ], "proteinEffect": { "hgvs": "XP_016869956.1:p.Pro395Ala", "hgvsWellDefined": "XP_016869956.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS567431" }, { "coordinates": [ { "allele": "G", "end": 1689, "referenceAllele": "C", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014468.1:c.1183C>G" ], "proteinEffect": { "hgvs": "XP_016869957.1:p.Pro395Ala", "hgvsWellDefined": "XP_016869957.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS567432" }, { "coordinates": [ { "allele": "G", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014469.1:c.1183C>G" ], "proteinEffect": { "hgvs": "XP_016869958.1:p.Pro395Ala", "hgvsWellDefined": "XP_016869958.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS567433" }, { "coordinates": [ { "allele": "G", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014470.1:c.1183C>G" ], "proteinEffect": { "hgvs": "XP_016869959.1:p.Pro395Ala", "hgvsWellDefined": "XP_016869959.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS567434" }, { "coordinates": [ { "allele": "G", "end": 1750, "referenceAllele": "C", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746242.2:n.1750C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594595" }, { "coordinates": [ { "allele": "G", "end": 1869, "referenceAllele": "C", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746243.2:n.1869C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594596" }, { "coordinates": [ { "allele": "G", "end": 1578, "referenceAllele": "C", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746244.2:n.1578C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594597" }, { "coordinates": [ { "allele": "G", "end": 1569, "referenceAllele": "C", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746245.1:n.1569C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594598" }, { "coordinates": [ { "allele": "G", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746248.1:n.2662C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594599" }, { "coordinates": [ { "allele": "G", "end": 1425, "referenceAllele": "C", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_002956770.1:n.1425C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602908" }, { "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.2:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Pro395Ala", "hgvsWellDefined": "NP_001073270.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS676218", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.1183C>G" }, "RefSeq": { "hgvs": "NM_001079802.2:c.1183C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Pro395Ala" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Pro395Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.2:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Pro395Ala", "hgvsWellDefined": "NP_001185892.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS679465" }, { "coordinates": [ { "allele": "G", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.2:c.1183C>G" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Pro395Ala", "hgvsWellDefined": "NP_001338425.1:p.Pro395Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688848" }, { "coordinates": [ { "allele": "G", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.2:c.1114C>G" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Pro372Ala", "hgvsWellDefined": "NP_001338426.1:p.Pro372Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688849" }, { "coordinates": [ { "allele": "G", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.2:c.1214C>G" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Ser405Cys", "hgvsWellDefined": "NP_001338427.1:p.Ser405Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS688850" }, { "coordinates": [ { "allele": "G", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.2:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338428.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688851" }, { "coordinates": [ { "allele": "G", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338429.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688852" }, { "coordinates": [ { "allele": "G", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.2:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338430.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688853" }, { "coordinates": [ { "allele": "G", "end": 1744, "referenceAllele": "C", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.2:c.787C>G" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Pro263Ala", "hgvsWellDefined": "NP_001338431.1:p.Pro263Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688854" }, { "coordinates": [ { "allele": "G", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.1306C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "G", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.1478C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }