{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2810420", "communityStandardTitle": [ "NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1428715", "active": true, "id": "COSM1428715" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1428716", "active": true, "id": "COSM1428716" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=720846[alleleid]", "alleleId": 720846, "preferredName": "NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/719200", "RCV": [ "RCV001726365" ], "variationId": 719200 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-1807182-G-A", "id": "4-1807182-G-A", "variant": "4:1807182 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1807182G>A?assembly=hg19", "id": "chr4:g.1807182G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1805455G>A?assembly=hg38", "id": "chr4:g.1805455G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/144546453", "rs": 144546453 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1807182-G-A?dataset=gnomad_r2_1", "id": "4-1807182-G-A", "variant": "4:1807182 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1805455-G-A?dataset=gnomad_r3", "id": "4-1805455-G-A", "variant": "4:1805455 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1805455-G-A?dataset=gnomad_r4", "id": "4-1805455-G-A", "variant": "4:1805455 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1805455, "referenceAllele": "G", "start": 1805454 } ], "hgvs": [ "NC_000004.12:g.1805455G>A", "CM000666.2:g.1805455G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1807182, "referenceAllele": "G", "start": 1807181 } ], "hgvs": [ "NC_000004.11:g.1807182G>A", "CM000666.1:g.1807182G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1776980, "referenceAllele": "G", "start": 1776979 } ], "hgvs": [ "NC_000004.10:g.1776980G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 17144, "referenceAllele": "G", "start": 17143 } ], "hgvs": [ "NG_012632.1:g.17144G>A", "LRG_1021:g.17144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.9:c.1519G>A" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Val507Ile", "hgvsWellDefined": "ENSP00000339824.4:p.Val507Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS904417" }, { "coordinates": [ { "allele": "A", "end": 1920, "referenceAllele": "G", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.8:c.*569G>A" ], "proteinEffect": { "hgvs": "ENSP00000260795.3:n.*569G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS742065" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.6:c.1177G>A" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:p.Val393Ile", "hgvsWellDefined": "ENSP00000231803.1:p.Val393Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS748505" }, { "coordinates": [ { "allele": "A", "end": 1776, "referenceAllele": "G", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.7:c.1501G>A" ], "proteinEffect": { "hgvs": "ENSP00000412903.3:p.Val501Ile", "hgvsWellDefined": "ENSP00000412903.3:p.Val501Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS754484" }, { "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.8:c.1513G>A" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Val505Ile", "hgvsWellDefined": "ENSP00000414914.2:p.Val505Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS755802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1513G>A" }, "RefSeq": { "hgvs": "NM_000142.5:c.1513G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Val505Ile" }, "RefSeq": { "hgvs": "NP_000133.1:p.Val505Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "G", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.7:c.1516G>A" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Val506Ile", "hgvsWellDefined": "ENSP00000420533.2:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS757357" }, { "coordinates": [ { "allele": "A", "end": 1615, "referenceAllele": "G", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.6:c.1513G>A" ], "proteinEffect": { "hgvs": "ENSP00000260795.2:p.Val505Ile", "hgvsWellDefined": "ENSP00000260795.2:p.Val505Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS250635" }, { "coordinates": [ { "allele": "A", "end": 1775, "referenceAllele": "G", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.8:c.1519G>A" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Val507Ile", "hgvsWellDefined": "ENSP00000339824.4:p.Val507Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS261022" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.5:c.1177G>A" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:p.Val393Ile", "hgvsWellDefined": "ENSP00000231803.1:p.Val393Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS262912" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.6:c.1177G>A" ], "proteinEffect": { "hgvs": "ENSP00000412903.2:p.Val393Ile", "hgvsWellDefined": "ENSP00000412903.2:p.Val393Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS282472" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "G", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.6:c.1513G>A" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Val505Ile", "hgvsWellDefined": "ENSP00000414914.2:p.Val505Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS295919" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "G", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000469068.1:n.579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311835" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.6:c.1516G>A" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Val506Ile", "hgvsWellDefined": "ENSP00000420533.2:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS321105" }, { "coordinates": [ { "allele": "A", "end": 1920, "referenceAllele": "G", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000613647.4:c.*569G>A" ], "proteinEffect": { "hgvs": "ENSP00000479472.1:n.*569G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS401838" }, { "@id": "http://reg.genome.network/allele/PA2825062169", "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "G", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.4:c.1513G>A", "LRG_1021t1:c.1513G>A" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Val505Ile", "hgvsWellDefined": "NP_000133.1:p.Val505Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006204" }, { "@id": "http://reg.genome.network/allele/PA915987683", "coordinates": [ { "allele": "A", "end": 1775, "referenceAllele": "G", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.1:c.1519G>A", "LRG_1021t2:c.1519G>A" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Val507Ile", "hgvsWellDefined": "NP_001156685.1:p.Val507Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS014364" }, { "@id": "http://reg.genome.network/allele/PA2830004736", "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.3:c.1177G>A" ], "proteinEffect": { "hgvs": "NP_075254.1:p.Val393Ile", "hgvsWellDefined": "NP_075254.1:p.Val393Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS037522" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713868.1:c.1525G>A" ], "proteinEffect": { "hgvs": "XP_006713931.1:p.Val509Ile", "hgvsWellDefined": "XP_006713931.1:p.Val509Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070395" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713869.1:c.1525G>A" ], "proteinEffect": { "hgvs": "XP_006713932.1:p.Val509Ile", "hgvsWellDefined": "XP_006713932.1:p.Val509Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070396" }, { "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "G", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713870.1:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_006713933.1:p.Val508Ile", "hgvsWellDefined": "XP_006713933.1:p.Val508Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070397" }, { "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713871.1:c.1519G>A" ], "proteinEffect": { "hgvs": "XP_006713934.1:p.Val507Ile", "hgvsWellDefined": "XP_006713934.1:p.Val507Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070398" }, { "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "G", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713872.1:c.1516G>A" ], "proteinEffect": { "hgvs": "XP_006713935.1:p.Val506Ile", "hgvsWellDefined": "XP_006713935.1:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070399" }, { "coordinates": [ { "allele": "A", "end": 1782, "referenceAllele": "G", "start": 1781 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713873.1:c.1513G>A" ], "proteinEffect": { "hgvs": "XP_006713936.1:p.Val505Ile", "hgvsWellDefined": "XP_006713936.1:p.Val505Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070400" }, { "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513420.1:c.1519G>A" ], "proteinEffect": { "hgvs": "XP_011511722.1:p.Val507Ile", "hgvsWellDefined": "XP_011511722.1:p.Val507Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS080668" }, { "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "G", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513422.1:c.1516G>A" ], "proteinEffect": { "hgvs": "XP_011511724.1:p.Val506Ile", "hgvsWellDefined": "XP_011511724.1:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS080669" }, { "@id": "http://reg.genome.network/allele/PA2827937933", "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "G", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.1:c.1516G>A" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Val506Ile", "hgvsWellDefined": "NP_001341738.1:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522695" }, { "@id": "http://reg.genome.network/allele/PA2827938558", "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "G", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.1:c.1516G>A" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Val506Ile", "hgvsWellDefined": "NP_001341739.1:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522696" }, { "coordinates": [ { "allele": "A", "end": 1920, "referenceAllele": "G", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.1:n.1920G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531416" }, { "@id": "http://reg.genome.network/allele/PA2827937933", "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "G", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.2:c.1516G>A" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Val506Ile", "hgvsWellDefined": "NP_001341738.1:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690324" }, { "@id": "http://reg.genome.network/allele/PA2827938558", "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "G", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.2:c.1516G>A" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Val506Ile", "hgvsWellDefined": "NP_001341739.1:p.Val506Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690325" }, { "coordinates": [ { "allele": "A", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.2:n.1939G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704898" }, { "@id": "http://reg.genome.network/allele/PA2825062169", "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.5:c.1513G>A" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Val505Ile", "hgvsWellDefined": "NP_000133.1:p.Val505Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS710802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1513G>A" }, "RefSeq": { "hgvs": "NM_000142.5:c.1513G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Val505Ile" }, "RefSeq": { "hgvs": "NP_000133.1:p.Val505Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA915987683", "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.2:c.1519G>A" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Val507Ile", "hgvsWellDefined": "NP_001156685.1:p.Val507Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS713038" }, { "@id": "http://reg.genome.network/allele/PA2830004736", "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.4:c.1177G>A" ], "proteinEffect": { "hgvs": "NP_075254.1:p.Val393Ile", "hgvsWellDefined": "NP_075254.1:p.Val393Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS728610" } ], "type": "nucleotide" }