{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA257500", "communityStandardTitle": [ "NM_000186.4(CFH):c.565G>T (p.Glu189Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31586[alleleid]", "alleleId": 31586, "preferredName": "NM_000186.4(CFH):c.565G>T (p.Glu189Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16547", "RCV": [ "RCV000018013" ], "variationId": 16547 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.196646743G>T?assembly=hg19", "id": "chr1:g.196646743G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.196677613G>T?assembly=hg38", "id": "chr1:g.196677613G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121913054", "rs": 121913054 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-196677613-G-T?dataset=gnomad_r4", "id": "1-196677613-G-T", "variant": "1:196677613 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 196677613, "referenceAllele": "G", "start": 196677612 } ], "hgvs": [ "NC_000001.11:g.196677613G>T", "CM000663.2:g.196677613G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 196646743, "referenceAllele": "G", "start": 196646742 } ], "hgvs": [ "NC_000001.10:g.196646743G>T", "CM000663.1:g.196646743G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 194913366, "referenceAllele": "G", "start": 194913365 } ], "hgvs": [ "NC_000001.9:g.194913366G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 30603, "referenceAllele": "G", "start": 30602 } ], "hgvs": [ "NG_007259.1:g.30603G>T", "LRG_47:g.30603G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000507" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 791, "endIntronDirection": "+", "endIntronOffset": 1548, "referenceAllele": "G", "start": 791, "startIntronDirection": "+", "startIntronOffset": 1547 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000359637.3:c.427+1548G>T" ], "proteinEffect": { "hgvs": "ENSP00000352658.2:n.427+1548G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS904469" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000470918.2:n.831G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905184" }, { "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "G", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695968.1:c.382G>T" ], "proteinEffect": { "hgvs": "ENSP00000512295.1:p.Glu128Ter", "hgvsWellDefined": "ENSP00000512295.1:p.Glu128_Leu388delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValSerPheThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907449" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695969.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512296.1:p.Glu189Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907450" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695970.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512297.1:p.Glu189Ter", "hgvsWellDefined": "ENSP00000512297.1:p.Glu189_Arg1173delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValLysThrCysSerLysSerSerIleAspIleGluAsnGlyPheIleSerGluSerGlnTyrThrTyrAlaLeuLysGluLysAlaLysTyrGlnCysLysLeuGlyTyrValThrAlaAspGlyGluThrSerGlySerIleThrCysGlyLysAspGlyTrpSerAlaGlnProThrCysIleLysSerCysAspIleProValPheMetAsnAlaArgThrLysAsnAspPheThrTrpPheLysLeuAsnAspThrLeuAspTyrGluCysHisAspGlyTyrGluSerAsnThrGlySerThrThrGlySerIleValCysGlyTyrAsnGlyTrpSerAspLeuProIleCysTyrGluArgGluCysGluLeuProLysIleAspValHisLeuValProAspArgLysLysAspGlnTyrLysValGlyGluValLeuLysPheSerCysLysProGlyPheThrIleValGlyProAsnSerValGlnCysTyrHisPheGlyLeuSerProAspLeuProIleCysLysGluGlnValGlnSerCysGlyProProProGluLeuLeuAsnGlyAsnValLysGluLysThrLysGluGluTyrGlyHisSerGluValValGluTyrTyrCysAsnProArgPheLeuMetLysGlyProAsnLysIleGlnCysValAspGlyGluTrpThrThrLeuProValCysIleValGluGluSerThrCysGlyAspIleProGluLeuGluHisGlyTrpAlaGlnLeuSerSerProProTyrTyrTyrGlyAspSerValGluPheAsnCysSerGluSerPheThrMetIleGlyHisArgSerIleThrCysIleHisGlyValTrpThrGlnLeuProGlnCysValAlaIleAspLysLeuLysLysCysLysSerSerAsnLeuIleIleLeuGluGluHisLeuLysAsnLysLysGluPheAspHisAsnSerAsnIleArgTyrArgCysArgGlyLysGluGlyTrpIleHisThrValCysIleAsnGlyArgTrpAspProGluValAsnCysSerMetAlaGlnIleGlnLeuCysProProProProGlnIleProAsnSerHisAsnMetThrThrThrLeuAsnTyrArgAspGlyGluLysValSerValLeuCysGlnGluAsnTyrLeuIleGlnGluGlyGluGluIleThrCysLysAspGlyArgTrpGlnSerIleProLeuCysValGluLysIleProCysSerGlnProProGlnIleGluHisGlyThrIleAsnSerSerArgSerSerGlnGluSerTyrAlaHisGlyThrLysLeuSerTyrThrCysGluGlyGlyPheArgIleSerGluGluAsnGluThrThrCysTyrMetGlyLysTrpSerSerProProGlnCysGluGluThrAspCysLeuSerLeuProSerPheGluAsnAlaIleProMetGlyGluLysLysAspValTyrLysAlaGlyGluGlnValThrTyrThrCysAlaThrTyrTyrLysMetAspGlyAlaSerAsnValThrCysIleAsnSerArgTrpThrGlyArgProThrCysArgAspThrSerCysValAsnProProThrValGlnAsnAlaTyrIleValSerArgGlnMetSerLysTyrProSerGlyGluArgValArgTyrGlnCysArgSerProTyrGluMetPheGlyAspGluGluValMetCysLeuAsnGlyAsnTrpThrGluProProGlnCysLysAspSerThrGlyLysCysGlyProProProProIleAspAsnGlyAspIleThrSerPheProLeuSerValTyrAlaProAlaSerSerValGluTyrGlnCysGlnAsnLeuTyrGlnLeuGluGlyAsnLysArgIleThrCysArgAsnGlyGlnTrpSerGluProProLysCysLeuHisProCysValIleSerArgGluIleMetGluAsnTyrAsnIleAlaLeuArgTrpThrAlaLysGlnLysLeuTyrSerArgThrGlyGluSerValGluPheValCysLysArgGlyTyrArgLeuSerSerArgSerHisThrLeuArgThrThrCysTrpAspGlyLysLeuGluTyrProThrCysAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907451" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695971.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512298.1:p.Glu189Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS907452" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695972.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512299.1:p.Glu189Ter", "hgvsWellDefined": "ENSP00000512299.1:p.Glu189_Ala775delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValLysThrCysSerLysSerSerIleAspIleGluAsnGlyPheIleSerGluSerGlnTyrThrTyrAlaLeuLysGluLysAlaLysTyrGlnCysLysLeuGlyTyrValThrAlaAspGlyGluThrSerGlySerIleThrCysGlyLysAspGlyTrpSerAlaGlnProThrCysIleLysSerCysAspIleProValPheMetAsnAlaArgThrLysAsnAspPheThrTrpPheLysLeuAsnAspThrLeuAspTyrGluCysHisAspGlyTyrGluSerAsnThrGlySerThrThrGlySerIleValCysGlyTyrAsnGlyTrpSerAspLeuProIleCysTyrGluArgGluCysGluLeuProLysIleAspValHisLeuValProAspArgLysLysAspGlnTyrLysValGlyGluValLeuLysPheSerCysLysProGlyPheThrIleValGlyProAsnSerValGlnCysTyrHisPheGlyLeuSerProAspLeuProIleCysLysGluGlnValGlnSerCysGlyProProProGluLeuLeuAsnGlyAsnValLysGluLysThrLysGluGluTyrGlyHisSerGluValValGluTyrTyrCysAsnProArgPheLeuMetLysGlyProAsnLysIleGlnCysValAspGlyGluTrpThrThrLeuProValCysIleValGluGluSerThrCysGlyAspIleProGluLeuGluHisGlyTrpAlaGlnLeuSerSerProProTyrTyrTyrGlyAspSerValGluPheAsnCysSerGluSerPheThrMetIleGlyHisArgSerIleThrCysIleHisGlyValTrpThrGlnLeuProGlnCysLeuThrCysGlnThrValIleSerMetGluLysLysLeuArgThrAsnValLeuLysValLeuGluLeuMetGlyLeuGlnLeuGlnAsnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907453" }, { "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "G", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695973.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512300.1:p.Glu189Ter", "hgvsWellDefined": "ENSP00000512300.1:p.Glu189_Ala578delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValLysThrCysSerLysSerSerIleAspIleGluAsnGlyPheIleSerGluSerGlnTyrThrTyrAlaLeuLysGluLysAlaLysTyrGlnCysLysLeuGlyTyrValThrAlaAspGlyGluThrSerGlySerIleThrCysGlyLysAspGlyTrpSerAlaGlnProThrCysIleLysSerCysAspIleProValPheMetAsnAlaArgThrLysAsnAspPheThrTrpPheLysLeuAsnAspThrLeuAspTyrGluCysHisAspGlyTyrGluSerAsnThrGlySerThrThrGlySerIleValCysGlyTyrAsnGlyTrpSerAspLeuProIleCysTyrAspGlyProAsnAlaValLeuLeuHisGlyTyrIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907454" }, { "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "G", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695974.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512301.1:p.Glu189Ter", "hgvsWellDefined": 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"ENSP00000512304.1:p.Glu189_Ala486delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValSerLysAlaValLeuThrPheSerThrGlnProCysLeuGlnGlnArgAsnHisPheTrpSerGlnLysLysSerGlnAlaLeuProSerGluLeuLeuIleGluGlyHisProSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907459" }, { "coordinates": [ { "allele": "T", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695979.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512305.1:p.Glu189Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695980.1:n.685G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907461" }, { "coordinates": [ { "allele": "T", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695981.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512306.1:p.Glu189Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS907462" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695983.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512308.1:p.Glu189Ter", "hgvsWellDefined": "ENSP00000512308.1:p.Glu189_Cys976del" }, "referenceSequence": "http://reg.genome.network/refseq/RS907463" }, { "coordinates": [ { "allele": "T", "end": 323, "endIntronDirection": "+", "endIntronOffset": 4450, "referenceAllele": "G", "start": 323, "startIntronDirection": "+", "startIntronOffset": 4449 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695984.1:c.244+4450G>T" ], "proteinEffect": { "hgvs": "ENSP00000512309.1:n.244+4450G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907464" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "G", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695986.1:c.*216G>T" ], "proteinEffect": { "hgvs": "ENSP00000512311.1:n.*216G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907465" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695987.1:c.376G>T" ], "proteinEffect": { "hgvs": "ENSP00000512312.1:p.Glu126Ter", "hgvsWellDefined": "ENSP00000512312.1:p.Glu126_Leu386delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValSerPheThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907466" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696018.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907495" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696019.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907496" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696020.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907497" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696021.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907498" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696022.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907499" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696023.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512334.1:p.Glu189Ter", "hgvsWellDefined": "ENSP00000512334.1:p.Glu189_Ser453delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValSerLysTyrThrThrLeuLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907500" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696024.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907501" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696025.1:n.649G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907502" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696026.1:c.565G>T" ], "proteinEffect": { "hgvs": "ENSP00000512335.1:p.Glu189Ter", "hgvsWellDefined": "ENSP00000512335.1:p.Glu189_Ser571delinsMetHisCysSerAspAspGlyPheTrpSerLysGluLysProLysCysValGluIleSerCysLysSerProAspValIleAsnGlySerProIleSerGlnLysIleIleTyrLysGluAsnGluArgPheGlnTyrLysCysAsnMetGlyTyrGluTyrSerGluArgGlyAspAlaValCysThrGluSerGlyTrpArgProLeuProSerCysGluGluLysSerCysAspAsnProTyrIleProAsnGlyAspTyrSerProLeuArgIleLysHisArgThrGlyAspGluIleThrTyrGlnCysArgAsnGlyPheTyrProAlaThrArgGlyAsnThrAlaLysCysThrSerThrGlyTrpIleProAlaProArgCysThrLeuLysProCysAspTyrProAspIleLysHisGlyGlyLeuTyrHisGluAsnMetArgArgProTyrPheProValAlaValGlyLysTyrTyrSerTyrTyrCysAspGluHisPheGluThrProSerGlySerTyrTrpAspHisIleHisCysThrGlnAspGlyTrpSerProAlaValProCysLeuArgLysCysTyrPheProTyrLeuGluAsnGlyTyrAsnGlnAsnHisGlyArgLysPheValGlnGlyLysSerIleAspValAlaCysHisProGlyTyrAlaLeuProLysAlaGlnThrThrValThrCysMetGluAsnGlyTrpSerProThrProArgCysIleArgValLysThrCysSerLysSerSerIleAspIleGluAsnGlyPheIleSerGluSerGlnTyrThrTyrAlaLeuLysGluLysAlaLysTyrGlnCysLysLeuGlyTyrValThrAlaAspGlyGluThrSerGlySerIleThrCysGlyLysAspGlyTrpSerAlaGlnProThrCysIleLysSerCysAspIleProValPheMetAsnAlaArgThrLysAsnAspPheThrTrpPheLysLeuAsnAspThrLeuAspTyrGluCysHisAspGlyTyrGluSerAsnThrGlySerThrThrGlySerIleValCysGlyTyrAsnGlyTrpSerAspLeuProIleCysTyrGlyLysMetArgThrSerTer" 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