{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA422663819", "communityStandardTitle": [ "NM_000186.4(CFH):c.3648A>T (p.Thr1216=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.196716395A>T?assembly=hg19", "id": "chr1:g.196716395A>T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 196747265, "referenceAllele": "A", "start": 196747264 } ], "hgvs": [ "NC_000001.11:g.196747265A>T", "CM000663.2:g.196747265A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 196716395, "referenceAllele": "A", "start": 196716394 } ], "hgvs": [ "NC_000001.10:g.196716395A>T", "CM000663.1:g.196716395A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 194983018, "referenceAllele": "A", "start": 194983017 } ], "hgvs": [ "NC_000001.9:g.194983018A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 100255, "referenceAllele": "A", "start": 100254 } ], "hgvs": [ "NG_007259.1:g.100255A>T", "LRG_47:g.100255A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000507" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4676, "referenceAllele": "A", "start": 4675 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000470918.2:n.4676A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905184" }, { "coordinates": [ { "allele": "T", "end": 3740, "referenceAllele": "A", "start": 3739 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695970.1:c.3474A>T" ], "proteinEffect": { "hgvs": "ENSP00000512297.1:p.Thr1158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907451" }, { "coordinates": [ { "allele": "T", "end": 3893, "referenceAllele": "A", "start": 3892 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695971.1:c.3627A>T" ], "proteinEffect": { "hgvs": "ENSP00000512298.1:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907452" }, { "coordinates": [ { "allele": "T", "end": 3319, "referenceAllele": "A", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695972.1:c.*725A>T" ], "proteinEffect": { "hgvs": "ENSP00000512299.1:n.*725A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907453" }, { "coordinates": [ { "allele": "T", "end": 3989, "referenceAllele": "A", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695973.1:c.*2012A>T" ], "proteinEffect": { "hgvs": "ENSP00000512300.1:n.*2012A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907454" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "A", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695974.1:c.3471A>T" ], "proteinEffect": { "hgvs": "ENSP00000512301.1:p.Thr1157=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907455" }, { "coordinates": [ { "allele": "T", "end": 3882, "referenceAllele": "A", "start": 3881 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695975.1:c.*1775A>T" ], "proteinEffect": { "hgvs": "ENSP00000512302.1:n.*1775A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907456" }, { "coordinates": [ { "allele": "T", "end": 3879, "referenceAllele": "A", "start": 3878 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695976.1:c.3459A>T" ], "proteinEffect": { "hgvs": "ENSP00000512303.1:p.Thr1153=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907457" }, { "coordinates": [ { "allele": "T", "end": 3700, "endIntronDirection": "+", "endIntronOffset": 68, "referenceAllele": "A", "start": 3700, "startIntronDirection": "+", "startIntronOffset": 67 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695981.1:c.3580+68A>T" ], "proteinEffect": { "hgvs": "ENSP00000512306.1:n.3580+68A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907462" }, { "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "A", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695984.1:c.1656A>T" ], "proteinEffect": { "hgvs": "ENSP00000512309.1:p.Thr552=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907464" }, { "coordinates": [ { "allele": "T", "end": 3790, "referenceAllele": "A", "start": 3789 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695986.1:c.*3299A>T" ], "proteinEffect": { "hgvs": "ENSP00000512311.1:n.*3299A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907465" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "A", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695990.1:n.682A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907467" }, { "coordinates": [ { "allele": "T", "end": 3730, "referenceAllele": "A", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696026.1:c.*1930A>T" ], "proteinEffect": { "hgvs": "ENSP00000512335.1:n.*1930A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907503" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696027.1:c.3642A>T" ], "proteinEffect": { "hgvs": "ENSP00000512336.1:p.Thr1214=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907504" }, { "coordinates": [ { "allele": "T", "end": 3660, "referenceAllele": "A", "start": 3659 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696028.1:c.3576A>T" ], "proteinEffect": { "hgvs": "ENSP00000512337.1:p.Thr1192=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907505" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696029.1:c.3642A>T" ], "proteinEffect": { "hgvs": "ENSP00000512338.1:p.Thr1214=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907506" }, { "coordinates": [ { "allele": "T", "end": 3856, "referenceAllele": "A", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696031.1:c.*3166A>T" ], "proteinEffect": { "hgvs": "ENSP00000512340.1:n.*3166A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907508" }, { "coordinates": [ { "allele": "T", "end": 3846, "endIntronDirection": "+", "endIntronOffset": 68, "referenceAllele": "A", "start": 3846, "startIntronDirection": "+", "startIntronOffset": 67 } ], "hgvs": [ "ENST00000696032.1:c.3580+68A>T" ], "proteinEffect": { "hgvs": "ENSP00000512341.1:n.3580+68A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907509" }, { "coordinates": [ { "allele": "T", "end": 1387, "endIntronDirection": "-", "endIntronOffset": 32531, "referenceAllele": "A", "start": 1387, "startIntronDirection": "-", "startIntronOffset": 32532 } ], "hgvs": [ "ENST00000696033.1:c.1160-32532A>T" ], "proteinEffect": { "hgvs": "ENSP00000512342.1:n.1160-32532A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907510" }, { "coordinates": [ { "allele": "T", "end": 3723, "referenceAllele": "A", "start": 3722 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.9:c.3648A>T" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Thr1216=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.3648A>T" }, "RefSeq": { "hgvs": "NM_000186.4:c.3648A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Thr1216=" }, "RefSeq": { "hgvs": "NP_000177.2:p.Thr1216=" } } } }, { "coordinates": [ { "allele": "T", "end": 3888, "referenceAllele": "A", "start": 3887 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.8:c.3648A>T" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Thr1216=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266382" }, { "coordinates": [ { "allele": "T", "end": 6746, "referenceAllele": "A", "start": 6745 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000466229.5:n.6746A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309651" }, { "@id": "http://reg.genome.network/allele/PA3065680933", "coordinates": [ { "allele": "T", "end": 3888, "referenceAllele": "A", "start": 3887 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.3:c.3648A>T", "LRG_47t1:c.3648A>T" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Thr1216=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006248" }, { "coordinates": [ { "allele": "T", "end": 3834, "referenceAllele": "A", "start": 3833 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "XR_001737134.2:n.3834A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587951" }, { "@id": "http://reg.genome.network/allele/PA3065680933", "coordinates": [ { "allele": "T", "end": 3723, "referenceAllele": "A", "start": 3722 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.4:c.3648A>T" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Thr1216=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674740", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.3648A>T" }, "RefSeq": { "hgvs": "NM_000186.4:c.3648A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Thr1216=" }, "RefSeq": { "hgvs": "NP_000177.2:p.Thr1216=" } } } } ], "type": "nucleotide" }