{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA280218", "communityStandardTitle": [ "NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31367[alleleid]", "alleleId": 31367, "preferredName": "NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16328", "RCV": [ "RCV000017725", "RCV000727147", "RCV000987394", "RCV004532375" ], "variationId": 16328 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1806119G>C?assembly=hg19", "id": "chr4:g.1806119G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1804392G>C?assembly=hg38", "id": "chr4:g.1804392G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28931614", "rs": 28931614 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1804392-G-C?dataset=gnomad_r4", "id": "4-1804392-G-C", "variant": "4:1804392 G / C" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 1804392, "referenceAllele": "G", "start": 1804391 } ], "hgvs": [ "NC_000004.12:g.1804392G>C", "CM000666.2:g.1804392G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 1806119, "referenceAllele": "G", "start": 1806118 } ], "hgvs": [ "NC_000004.11:g.1806119G>C", "CM000666.1:g.1806119G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 1775917, "referenceAllele": "G", "start": 1775916 } ], "hgvs": [ "NC_000004.10:g.1775917G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "C", "end": 16081, "referenceAllele": "G", "start": 16080 } ], "hgvs": [ "NG_012632.1:g.16081G>C", "LRG_1021:g.16081G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.9:c.1144G>C" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Gly382Arg", "hgvsWellDefined": "ENSP00000339824.4:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS904417" }, { "coordinates": [ { "allele": "C", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.8:c.*194G>C" ], "proteinEffect": { "hgvs": "ENSP00000260795.3:n.*194G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS742065" }, { "coordinates": [ { "allele": "C", "end": 969, "endIntronDirection": "-", "endIntronOffset": 431, "referenceAllele": "G", "start": 969, "startIntronDirection": "-", "startIntronOffset": 432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.6:c.931-432G>C" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:n.931-432G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS748505" }, { "coordinates": [ { "allele": "C", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.7:c.1126G>C" ], "proteinEffect": { "hgvs": "ENSP00000412903.3:p.Gly376Arg", "hgvsWellDefined": "ENSP00000412903.3:p.Gly376Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754484" }, { "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.8:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Gly380Arg", "hgvsWellDefined": "ENSP00000414914.2:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS755802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1138G>C" }, "RefSeq": { "hgvs": "NM_000142.5:c.1138G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Gly380Arg" }, "RefSeq": { "hgvs": "NP_000133.1:p.Gly380Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.7:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Gly380Arg", "hgvsWellDefined": "ENSP00000420533.2:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS757357" }, { "coordinates": [ { "allele": "C", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000643463.1:n.289G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767296" }, { "coordinates": [ { "allele": "C", "end": 1240, "referenceAllele": "G", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.6:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000260795.2:p.Gly380Arg", "hgvsWellDefined": "ENSP00000260795.2:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS250635" }, { "coordinates": [ { "allele": "C", "end": 1400, "referenceAllele": "G", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.8:c.1144G>C" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Gly382Arg", "hgvsWellDefined": "ENSP00000339824.4:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261022" }, { "coordinates": [ { "allele": "C", "end": 969, "endIntronDirection": "-", "endIntronOffset": 431, "referenceAllele": "G", "start": 969, "startIntronDirection": "-", "startIntronOffset": 432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.5:c.931-432G>C" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:n.931-432G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS262912" }, { "coordinates": [ { "allele": "C", "end": 1186, "endIntronDirection": "-", "endIntronOffset": 431, "referenceAllele": "G", "start": 1186, "startIntronDirection": "-", "startIntronOffset": 432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.6:c.931-432G>C" ], "proteinEffect": { "hgvs": "ENSP00000412903.2:n.931-432G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS282472" }, { "coordinates": [ { "allele": "C", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.6:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Gly380Arg", "hgvsWellDefined": "ENSP00000414914.2:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS295919" }, { "coordinates": [ { "allele": "C", "end": 1399, "referenceAllele": "G", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.6:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Gly380Arg", "hgvsWellDefined": "ENSP00000420533.2:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS321105" }, { "coordinates": [ { "allele": "C", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000613647.4:c.*194G>C" ], "proteinEffect": { "hgvs": "ENSP00000479472.1:n.*194G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS401838" }, { "@id": "http://reg.genome.network/allele/PA111936", "coordinates": [ { "allele": "C", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.4:c.1138G>C", "LRG_1021t1:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Gly380Arg", "hgvsWellDefined": "NP_000133.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006204" }, { "@id": "http://reg.genome.network/allele/PA129945", "coordinates": [ { "allele": "C", "end": 1400, "referenceAllele": "G", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.1:c.1144G>C", "LRG_1021t2:c.1144G>C" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Gly382Arg", "hgvsWellDefined": "NP_001156685.1:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014364" }, { "coordinates": [ { "allele": "C", "end": 1186, "endIntronDirection": "-", "endIntronOffset": 431, "referenceAllele": "G", "start": 1186, "startIntronDirection": "-", "startIntronOffset": 432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.3:c.931-432G>C" ], "proteinEffect": { "hgvs": "NP_075254.1:n.931-432G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS037522" }, { "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713868.1:c.1144G>C" ], "proteinEffect": { "hgvs": "XP_006713931.1:p.Gly382Arg", "hgvsWellDefined": "XP_006713931.1:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070395" }, { "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713869.1:c.1144G>C" ], "proteinEffect": { "hgvs": "XP_006713932.1:p.Gly382Arg", "hgvsWellDefined": "XP_006713932.1:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070396" }, { "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713870.1:c.1144G>C" ], "proteinEffect": { "hgvs": "XP_006713933.1:p.Gly382Arg", "hgvsWellDefined": "XP_006713933.1:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070397" }, { "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713871.1:c.1144G>C" ], "proteinEffect": { "hgvs": "XP_006713934.1:p.Gly382Arg", "hgvsWellDefined": "XP_006713934.1:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070398" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713872.1:c.1138G>C" ], "proteinEffect": { "hgvs": "XP_006713935.1:p.Gly380Arg", "hgvsWellDefined": "XP_006713935.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070399" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713873.1:c.1138G>C" ], "proteinEffect": { "hgvs": "XP_006713936.1:p.Gly380Arg", "hgvsWellDefined": "XP_006713936.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070400" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513420.1:c.1138G>C" ], "proteinEffect": { "hgvs": "XP_011511722.1:p.Gly380Arg", "hgvsWellDefined": "XP_011511722.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080668" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513422.1:c.1138G>C" ], "proteinEffect": { "hgvs": "XP_011511724.1:p.Gly380Arg", "hgvsWellDefined": "XP_011511724.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080669" }, { "@id": "http://reg.genome.network/allele/PA2827937821", "coordinates": [ { "allele": "C", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.1:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Gly380Arg", "hgvsWellDefined": "NP_001341738.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522695" }, { "@id": "http://reg.genome.network/allele/PA2827938446", "coordinates": [ { "allele": "C", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.1:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Gly380Arg", "hgvsWellDefined": "NP_001341739.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522696" }, { "coordinates": [ { "allele": "C", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.1:n.1545G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531416" }, { "@id": "http://reg.genome.network/allele/PA2827937821", "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.2:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Gly380Arg", "hgvsWellDefined": "NP_001341738.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690324" }, { "@id": "http://reg.genome.network/allele/PA2827938446", "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.2:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Gly380Arg", "hgvsWellDefined": "NP_001341739.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690325" }, { "coordinates": [ { "allele": "C", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.2:n.1564G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704898" }, { "@id": "http://reg.genome.network/allele/PA111936", "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.5:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Gly380Arg", "hgvsWellDefined": "NP_000133.1:p.Gly380Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS710802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1138G>C" }, "RefSeq": { "hgvs": "NM_000142.5:c.1138G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Gly380Arg" }, "RefSeq": { "hgvs": "NP_000133.1:p.Gly380Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA129945", "coordinates": [ { "allele": "C", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.2:c.1144G>C" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Gly382Arg", "hgvsWellDefined": "NP_001156685.1:p.Gly382Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713038" }, { "coordinates": [ { "allele": "C", "end": 1205, "endIntronDirection": "-", "endIntronOffset": 431, "referenceAllele": "G", "start": 1205, "startIntronDirection": "-", "startIntronOffset": 432 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.4:c.931-432G>C" ], "proteinEffect": { "hgvs": "NP_075254.1:n.931-432G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS728610" } ], "type": "nucleotide" }