{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355979201", "communityStandardTitle": [ "NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671816[alleleid]", "alleleId": 1671816, "preferredName": "NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679899", "RCV": [ "RCV002227915" ], "variationId": 1679899 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1806164C>A?assembly=hg19", "id": "chr4:g.1806164C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1804437C>A?assembly=hg38", "id": "chr4:g.1804437C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2108797528", "rs": 2108797528 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1804437, "referenceAllele": "C", "start": 1804436 } ], "hgvs": [ "NC_000004.12:g.1804437C>A", "CM000666.2:g.1804437C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1806164, "referenceAllele": "C", "start": 1806163 } ], "hgvs": [ "NC_000004.11:g.1806164C>A", "CM000666.1:g.1806164C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1775962, "referenceAllele": "C", "start": 1775961 } ], "hgvs": [ "NC_000004.10:g.1775962C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 16126, "referenceAllele": "C", "start": 16125 } ], "hgvs": [ "NG_012632.1:g.16126C>A", "LRG_1021:g.16126C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.9:c.1189C>A" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Leu397Ile", "hgvsWellDefined": "ENSP00000339824.4:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS904417" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "C", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.8:c.*239C>A" ], "proteinEffect": { "hgvs": "ENSP00000260795.3:n.*239C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS742065" }, { "coordinates": [ { "allele": "A", "end": 969, "endIntronDirection": "-", "endIntronOffset": 386, "referenceAllele": "C", "start": 969, "startIntronDirection": "-", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.6:c.931-387C>A" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:n.931-387C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS748505" }, { "coordinates": [ { "allele": "A", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.7:c.1171C>A" ], "proteinEffect": { "hgvs": "ENSP00000412903.3:p.Leu391Ile", "hgvsWellDefined": "ENSP00000412903.3:p.Leu391Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS754484" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.8:c.1183C>A" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Leu395Ile", "hgvsWellDefined": "ENSP00000414914.2:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS755802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1183C>A" }, "RefSeq": { "hgvs": "NM_000142.5:c.1183C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Leu395Ile" }, "RefSeq": { "hgvs": "NP_000133.1:p.Leu395Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.7:c.1183C>A" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Leu395Ile", "hgvsWellDefined": "ENSP00000420533.2:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS757357" }, { "coordinates": [ { "allele": "A", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000643463.1:n.334C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767296" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.6:c.1183C>A" ], "proteinEffect": { "hgvs": "ENSP00000260795.2:p.Leu395Ile", "hgvsWellDefined": "ENSP00000260795.2:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS250635" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.8:c.1189C>A" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Leu397Ile", "hgvsWellDefined": "ENSP00000339824.4:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS261022" }, { "coordinates": [ { "allele": "A", "end": 969, "endIntronDirection": "-", "endIntronOffset": 386, "referenceAllele": "C", "start": 969, "startIntronDirection": "-", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.5:c.931-387C>A" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:n.931-387C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS262912" }, { "coordinates": [ { "allele": "A", "end": 1186, "endIntronDirection": "-", "endIntronOffset": 386, "referenceAllele": "C", "start": 1186, "startIntronDirection": "-", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.6:c.931-387C>A" ], "proteinEffect": { "hgvs": "ENSP00000412903.2:n.931-387C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS282472" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.6:c.1183C>A" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Leu395Ile", "hgvsWellDefined": "ENSP00000414914.2:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS295919" }, { "coordinates": [ { "allele": "A", "end": 1444, "referenceAllele": "C", "start": 1443 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.6:c.1183C>A" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Leu395Ile", "hgvsWellDefined": "ENSP00000420533.2:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS321105" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "C", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000613647.4:c.*239C>A" ], "proteinEffect": { "hgvs": "ENSP00000479472.1:n.*239C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS401838" }, { "@id": "http://reg.genome.network/allele/PA2825061996", "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.4:c.1183C>A", "LRG_1021t1:c.1183C>A" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Leu395Ile", "hgvsWellDefined": "NP_000133.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006204" }, { "@id": "http://reg.genome.network/allele/PA2573185262", "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.1:c.1189C>A", "LRG_1021t2:c.1189C>A" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Leu397Ile", "hgvsWellDefined": "NP_001156685.1:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS014364" }, { "coordinates": [ { "allele": "A", "end": 1186, "endIntronDirection": "-", "endIntronOffset": 386, "referenceAllele": "C", "start": 1186, "startIntronDirection": "-", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.3:c.931-387C>A" ], "proteinEffect": { "hgvs": "NP_075254.1:n.931-387C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS037522" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713868.1:c.1189C>A" ], "proteinEffect": { "hgvs": "XP_006713931.1:p.Leu397Ile", "hgvsWellDefined": "XP_006713931.1:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070395" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713869.1:c.1189C>A" ], "proteinEffect": { "hgvs": "XP_006713932.1:p.Leu397Ile", "hgvsWellDefined": "XP_006713932.1:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070396" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713870.1:c.1189C>A" ], "proteinEffect": { "hgvs": "XP_006713933.1:p.Leu397Ile", "hgvsWellDefined": "XP_006713933.1:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070397" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713871.1:c.1189C>A" ], "proteinEffect": { "hgvs": "XP_006713934.1:p.Leu397Ile", "hgvsWellDefined": "XP_006713934.1:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070398" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713872.1:c.1183C>A" ], "proteinEffect": { "hgvs": "XP_006713935.1:p.Leu395Ile", "hgvsWellDefined": "XP_006713935.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070399" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713873.1:c.1183C>A" ], "proteinEffect": { "hgvs": "XP_006713936.1:p.Leu395Ile", "hgvsWellDefined": "XP_006713936.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070400" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513420.1:c.1183C>A" ], "proteinEffect": { "hgvs": "XP_011511722.1:p.Leu395Ile", "hgvsWellDefined": "XP_011511722.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS080668" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513422.1:c.1183C>A" ], "proteinEffect": { "hgvs": "XP_011511724.1:p.Leu395Ile", "hgvsWellDefined": "XP_011511724.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS080669" }, { "@id": "http://reg.genome.network/allele/PA2827937836", "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.1:c.1183C>A" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Leu395Ile", "hgvsWellDefined": "NP_001341738.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522695" }, { "@id": "http://reg.genome.network/allele/PA2827938461", "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.1:c.1183C>A" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Leu395Ile", "hgvsWellDefined": "NP_001341739.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522696" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "C", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.1:n.1590C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531416" }, { "@id": "http://reg.genome.network/allele/PA2827937836", "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.2:c.1183C>A" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Leu395Ile", "hgvsWellDefined": "NP_001341738.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690324" }, { "@id": "http://reg.genome.network/allele/PA2827938461", "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.2:c.1183C>A" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Leu395Ile", "hgvsWellDefined": "NP_001341739.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690325" }, { "coordinates": [ { "allele": "A", "end": 1609, "referenceAllele": "C", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.2:n.1609C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704898" }, { "@id": "http://reg.genome.network/allele/PA2825061996", "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.5:c.1183C>A" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Leu395Ile", "hgvsWellDefined": "NP_000133.1:p.Leu395Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS710802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1183C>A" }, "RefSeq": { "hgvs": "NM_000142.5:c.1183C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Leu395Ile" }, "RefSeq": { "hgvs": "NP_000133.1:p.Leu395Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2573185262", "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.2:c.1189C>A" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Leu397Ile", "hgvsWellDefined": "NP_001156685.1:p.Leu397Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS713038" }, { "coordinates": [ { "allele": "A", "end": 1205, "endIntronDirection": "-", "endIntronOffset": 386, "referenceAllele": "C", "start": 1205, "startIntronDirection": "-", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.4:c.931-387C>A" ], "proteinEffect": { "hgvs": "NP_075254.1:n.931-387C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS728610" } ], "type": "nucleotide" }