{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA257510", "communityStandardTitle": [ "NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31592[alleleid]", "alleleId": 31592, "preferredName": "NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16553", "RCV": [ "RCV000018020" ], "variationId": 16553 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.196706705T>A?assembly=hg19", "id": "chr1:g.196706705T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.196737575T>A?assembly=hg38", "id": "chr1:g.196737575T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121913057", "rs": 121913057 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 196737575, "referenceAllele": 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"ENSP00000512301.1:p.Tyr840_Arg1172delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleLysThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" 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"ENSP00000512303.1:p.Tyr836_Arg1168delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleLysThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" 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"ENSP00000512306.1:p.Tyr899_Asn1196delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleLysThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGluLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907462" }, { "coordinates": [ { "allele": "A", "end": 2781, "referenceAllele": "T", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695983.1:c.2697T>A" ], "proteinEffect": { "hgvs": "ENSP00000512308.1:p.Tyr899Ter", "hgvsWellDefined": "ENSP00000512308.1:p.Tyr899_Cys976del" }, "referenceSequence": "http://reg.genome.network/refseq/RS907463" }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "T", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695984.1:c.705T>A" ], "proteinEffect": { "hgvs": "ENSP00000512309.1:p.Tyr235Ter", "hgvsWellDefined": "ENSP00000512309.1:p.Tyr235_Arg567delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleLysThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" 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"ENSP00000512335.1:n.*979T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907503" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "T", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696027.1:c.2691T>A" ], "proteinEffect": { "hgvs": "ENSP00000512336.1:p.Tyr897Ter", "hgvsWellDefined": "ENSP00000512336.1:p.Tyr897_Arg1229delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleLysThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907504" }, { "coordinates": [ { "allele": "A", "end": 2781, "referenceAllele": "T", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696028.1:c.2697T>A" ], "proteinEffect": { "hgvs": "ENSP00000512337.1:p.Tyr899Ter", "hgvsWellDefined": "ENSP00000512337.1:p.Tyr899_Arg1207delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGluThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907505" }, { "coordinates": [ { "allele": "A", "end": 2781, "referenceAllele": "T", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696029.1:c.2697T>A" ], "proteinEffect": { "hgvs": "ENSP00000512338.1:p.Tyr899Ter", "hgvsWellDefined": "ENSP00000512338.1:p.Tyr899_Arg1229delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleAsnCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.2697T>A" }, "RefSeq": { "hgvs": "NM_000186.4:c.2697T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Tyr899Ter" }, "RefSeq": { "hgvs": "NP_000177.2:p.Tyr899Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2937, "referenceAllele": "T", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.8:c.2697T>A" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Tyr899Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266382" }, { "coordinates": [ { "allele": "A", "end": 4713, "referenceAllele": "T", "start": 4712 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000466229.5:n.4713T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309651" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "T", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000470918.1:n.200T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313233" }, { "@id": "http://reg.genome.network/allele/PA257512", "coordinates": [ { "allele": "A", "end": 2937, "referenceAllele": "T", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.3:c.2697T>A", "LRG_47t1:c.2697T>A" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006248" }, { "coordinates": [ { "allele": "A", "end": 2883, "referenceAllele": "T", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "XR_001737134.2:n.2883T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587951" }, { "@id": "http://reg.genome.network/allele/PA257512", "coordinates": [ { "allele": "A", "end": 2772, "referenceAllele": "T", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.4:c.2697T>A" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Tyr899Ter", "hgvsWellDefined": "NP_000177.2:p.Tyr899_Arg1231delinsThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGlyLeuProCysLysSerProProGluIleSerHisGlyValValAlaHisMetSerAspSerTyrGlnTyrGlyGluGluValThrTyrLysCysPheGluGlyPheGlyIleAspGlyProAlaIleAlaLysCysLeuGlyGluLysTrpSerHisProProSerCysIleLysThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674740", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.2697T>A" }, "RefSeq": { "hgvs": "NM_000186.4:c.2697T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Tyr899Ter" }, "RefSeq": { "hgvs": "NP_000177.2:p.Tyr899Ter" } } } } ], "type": "nucleotide" }