{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA121761", "communityStandardTitle": [ "NM_000128.4(F11):c.1782C>A (p.Ser594Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26939[alleleid]", "alleleId": 26939, "preferredName": "NM_000128.4(F11):c.1782C>A (p.Ser594Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11900", "RCV": [ "RCV000012675" ], "variationId": 11900 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.187209672C>A?assembly=hg19", "id": "chr4:g.187209672C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.186288518C>A?assembly=hg38", "id": "chr4:g.186288518C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28934609", "rs": 28934609 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-186288518-C-A?dataset=gnomad_r4", "id": "4-186288518-C-A", "variant": "4:186288518 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 186288518, "referenceAllele": "C", "start": 186288517 } ], "hgvs": [ "NC_000004.12:g.186288518C>A", "CM000666.2:g.186288518C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 187209672, "referenceAllele": "C", "start": 187209671 } ], "hgvs": [ "NC_000004.11:g.187209672C>A", "CM000666.1:g.187209672C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 187446666, "referenceAllele": "C", "start": 187446665 } ], "hgvs": [ "NC_000004.10:g.187446666C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 27555, "referenceAllele": "C", "start": 27554 } ], "hgvs": [ "NG_008051.1:g.27555C>A", "LRG_583:g.27555C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000807" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1890, "referenceAllele": "C", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000403665.7:c.1782C>A" ], "proteinEffect": { "hgvs": "ENSP00000384957.2:p.Ser594Arg", "hgvsWellDefined": "ENSP00000384957.2:p.Ser594Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754055", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403665.7:c.1782C>A" }, "RefSeq": { "hgvs": "NM_000128.4:c.1782C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384957.2:p.Ser594Arg" }, "RefSeq": { "hgvs": "NP_000119.1:p.Ser594Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000264691.4:c.382C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS251561" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000264692.8:c.1620C>A" ], "proteinEffect": { "hgvs": "ENSP00000264692.5:p.Ser540Arg", "hgvsWellDefined": "ENSP00000264692.5:p.Ser540Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS251562" }, { "coordinates": [ { "allele": "A", "end": 2134, "referenceAllele": "C", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000403665.6:c.1782C>A" ], "proteinEffect": { "hgvs": "ENSP00000384957.2:p.Ser594Arg", "hgvsWellDefined": "ENSP00000384957.2:p.Ser594Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS279867" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "C", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "ENST00000503841.1:n.301C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336063" }, { "@id": "http://reg.genome.network/allele/PA103198", "coordinates": [ { "allele": "A", "end": 2115, "referenceAllele": "C", "start": 2114 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_000128.3:c.1782C>A", "LRG_583t1:c.1782C>A" ], "proteinEffect": { "hgvs": "NP_000119.1:p.Ser594Arg", "hgvsWellDefined": "NP_000119.1:p.Ser594Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006190" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN027725", "geneNCBI_id": 285441, "geneSymbol": "F11-AS1", "hgvs": [ "NR_033900.1:n.976G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS049222" }, { "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262821.2:c.1785C>A" ], "proteinEffect": { "hgvs": "XP_005262878.1:p.Ser595Arg", "hgvsWellDefined": "XP_005262878.1:p.Ser595Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063580" }, { "coordinates": [ { "allele": "A", "end": 2041, "referenceAllele": "C", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262822.2:c.1689C>A" ], "proteinEffect": { "hgvs": "XP_005262879.1:p.Ser563Arg", "hgvsWellDefined": "XP_005262879.1:p.Ser563Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063581" }, { "coordinates": [ { "allele": "A", "end": 1867, "referenceAllele": "C", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262823.2:c.1515C>A" ], "proteinEffect": { "hgvs": "XP_005262880.1:p.Ser505Arg", "hgvsWellDefined": "XP_005262880.1:p.Ser505Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063582" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_006714137.1:c.1737C>A" ], "proteinEffect": { "hgvs": "XP_006714200.1:p.Ser579Arg", "hgvsWellDefined": "XP_006714200.1:p.Ser579Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070515" }, { "coordinates": [ { "allele": "A", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262821.4:c.1785C>A" ], "proteinEffect": { "hgvs": "XP_005262878.1:p.Ser595Arg", "hgvsWellDefined": "XP_005262878.1:p.Ser595Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535554" }, { "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "C", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262822.4:c.1689C>A" ], "proteinEffect": { "hgvs": "XP_005262879.1:p.Ser563Arg", "hgvsWellDefined": "XP_005262879.1:p.Ser563Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535555" }, { "coordinates": [ { "allele": "A", "end": 1848, "referenceAllele": "C", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_005262823.4:c.1515C>A" ], "proteinEffect": { "hgvs": "XP_005262880.1:p.Ser505Arg", "hgvsWellDefined": "XP_005262880.1:p.Ser505Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535556" }, { "coordinates": [ { "allele": "A", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "XM_006714137.3:c.1737C>A" ], "proteinEffect": { "hgvs": "XP_006714200.1:p.Ser579Arg", "hgvsWellDefined": "XP_006714200.1:p.Ser579Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538666" }, { "@id": "http://reg.genome.network/allele/PA103198", "coordinates": [ { "allele": "A", "end": 1890, "referenceAllele": "C", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN003529", "geneNCBI_id": 2160, "geneSymbol": "F11", "hgvs": [ "NM_000128.4:c.1782C>A" ], "proteinEffect": { "hgvs": "NP_000119.1:p.Ser594Arg", "hgvsWellDefined": "NP_000119.1:p.Ser594Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674715", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403665.7:c.1782C>A" }, "RefSeq": { "hgvs": "NM_000128.4:c.1782C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384957.2:p.Ser594Arg" }, "RefSeq": { "hgvs": "NP_000119.1:p.Ser594Arg" } } } } ], "type": "nucleotide" }