{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7910295", "communityStandardTitle": [ "NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=529771[alleleid]", "alleleId": 529771, "preferredName": "NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/541248", "RCV": [ "RCV000651474" ], "variationId": 541248 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-14024649-G-A", "id": "16-14024649-G-A", "variant": "16:14024649 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.14024649G>A?assembly=hg19", "id": "chr16:g.14024649G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.13930792G>A?assembly=hg38", "id": "chr16:g.13930792G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/202243691", "rs": 202243691 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-14024649-G-A?dataset=gnomad_r2_1", "id": "16-14024649-G-A", "variant": "16:14024649 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-13930792-G-A?dataset=gnomad_r3", "id": "16-13930792-G-A", "variant": "16:13930792 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-13930792-G-A?dataset=gnomad_r4", "id": "16-13930792-G-A", "variant": "16:13930792 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 13930792, "referenceAllele": "G", "start": 13930791 } ], "hgvs": [ "NC_000016.10:g.13930792G>A", "CM000678.2:g.13930792G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 14024649, "referenceAllele": "G", "start": 14024648 } ], "hgvs": [ "NC_000016.9:g.14024649G>A", "CM000678.1:g.14024649G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 13932150, "referenceAllele": "G", "start": 13932149 } ], "hgvs": [ "NC_000016.8:g.13932150G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 15636, "referenceAllele": "G", "start": 15635 } ], "hgvs": [ "NG_011442.1:g.15636G>A", "LRG_463:g.15636G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001720" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682552.1:n.863G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827542" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682568.1:n.953G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827558" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682617.1:c.1013G>A" ], "proteinEffect": { "hgvs": "ENSP00000507912.1:p.Arg338Gln", "hgvsWellDefined": "ENSP00000507912.1:p.Arg338Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS827606" }, { "coordinates": [ { "allele": "A", "end": 1032, "referenceAllele": "G", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682826.1:c.*189G>A" ], "proteinEffect": { "hgvs": "ENSP00000507274.1:n.*189G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827814" }, { "coordinates": [ { "allele": "A", "end": 2915, "referenceAllele": "G", "start": 2914 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682909.1:n.2915G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827897" }, { "coordinates": [ { "allele": "A", "end": 2520, "referenceAllele": "G", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683277.1:n.2520G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828258" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683407.1:n.883G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828384" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683962.1:c.*569G>A" ], "proteinEffect": { "hgvs": "ENSP00000506854.1:n.*569G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828925" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000311895.8:c.875G>A" ], "proteinEffect": { "hgvs": "ENSP00000310520.7:p.Arg292Gln", "hgvsWellDefined": "ENSP00000310520.7:p.Arg292Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS745755", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.875G>A" }, "RefSeq": { "hgvs": "NM_005236.3:c.875G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Arg292Gln" }, "RefSeq": { "hgvs": "NP_005227.1:p.Arg292Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000311895.7:c.875G>A" ], "proteinEffect": { "hgvs": "ENSP00000310520.7:p.Arg292Gln", "hgvsWellDefined": "ENSP00000310520.7:p.Arg292Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS256598" }, { "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000574194.1:c.402G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383583" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "G", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000574781.1:n.552G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383827" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000575156.5:c.875G>A" ], "proteinEffect": { "hgvs": "ENSP00000459933.1:p.Arg292Gln", "hgvsWellDefined": "ENSP00000459933.1:p.Arg292Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS383997" }, { "@id": "http://reg.genome.network/allele/PA658807159", "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.2:c.875G>A", "LRG_463t1:c.875G>A" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Arg292Gln", "hgvsWellDefined": "NP_005227.1:p.Arg292Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS030348" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.1:c.1013G>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Arg338Gln", "hgvsWellDefined": "XP_011520726.1:p.Arg338Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089576" }, { "coordinates": [ { "allele": "A", "end": 1567, "referenceAllele": "G", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522425.1:c.332G>A" ], "proteinEffect": { "hgvs": "XP_011520727.1:p.Arg111Gln", "hgvsWellDefined": "XP_011520727.1:p.Arg111Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089577" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522426.1:c.86G>A" ], "proteinEffect": { "hgvs": "XP_011520728.1:p.Arg29Gln", "hgvsWellDefined": "XP_011520728.1:p.Arg29Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089578" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XR_932805.1:n.1034G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128721" }, { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "G", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.3:c.1013G>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Arg338Gln", "hgvsWellDefined": "XP_011520726.1:p.Arg338Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546577" }, { "coordinates": [ { "allele": "A", "end": 1006, "referenceAllele": "G", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_017023043.2:c.86G>A" ], "proteinEffect": { "hgvs": "XP_016878532.1:p.Arg29Gln", "hgvsWellDefined": "XP_016878532.1:p.Arg29Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573869" }, { "@id": "http://reg.genome.network/allele/PA658807159", "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.3:c.875G>A" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Arg292Gln", "hgvsWellDefined": "NP_005227.1:p.Arg292Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696357", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.875G>A" }, "RefSeq": { "hgvs": "NM_005236.3:c.875G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Arg292Gln" }, "RefSeq": { "hgvs": "NP_005227.1:p.Arg292Gln" } } } } ], "type": "nucleotide" }