{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1139991926", "communityStandardTitle": [ "NM_000186.4(CFH):c.2016A= (p.Gln672=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3753396", "rs": 3753396 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 196726612, "referenceAllele": "A", "start": 196726611 } ], "hgvs": [ "NC_000001.11:g.196726612A=", "CM000663.2:g.196726612A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 196695742, "referenceAllele": "A", "start": 196695741 } ], "hgvs": [ "NC_000001.10:g.196695742A=", "CM000663.1:g.196695742A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 194962365, "referenceAllele": "A", "start": 194962364 } ], "hgvs": [ "NC_000001.9:g.194962365A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 79602, "referenceAllele": "A", "start": 79601 } ], "hgvs": [ "NG_007259.1:g.79602A=", "LRG_47:g.79602A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000507" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "A", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000470918.2:n.2282A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS905184" }, { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "A", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695969.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512296.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907450" }, { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "A", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695970.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512297.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907451" }, { "coordinates": [ { "allele": "A", "end": 2261, "referenceAllele": "A", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695971.1:c.1995A=" ], "proteinEffect": { "hgvs": "ENSP00000512298.1:p.Gln665=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907452" }, { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "A", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695972.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512299.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907453" }, { "coordinates": [ { "allele": "A", "end": 2357, "referenceAllele": "A", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695973.1:c.*380A=" ], "proteinEffect": { "hgvs": "ENSP00000512300.1:n.*380A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907454" }, { "coordinates": [ { "allele": "A", "end": 2079, "referenceAllele": "A", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695974.1:c.1839A=" ], "proteinEffect": { "hgvs": "ENSP00000512301.1:p.Gln613=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907455" }, { "coordinates": [ { "allele": "A", "end": 2250, "referenceAllele": "A", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695975.1:c.*143A=" ], "proteinEffect": { "hgvs": "ENSP00000512302.1:n.*143A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907456" }, { "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "A", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695976.1:c.1827A=" ], "proteinEffect": { "hgvs": "ENSP00000512303.1:p.Gln609=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907457" }, { "coordinates": [ { "allele": "A", "end": 2136, "referenceAllele": "A", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695981.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512306.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907462" }, { "coordinates": [ { "allele": "A", "end": 2100, "referenceAllele": "A", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695983.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512308.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907463" }, { "coordinates": [ { "allele": "A", "end": 323, "endIntronDirection": "-", "endIntronOffset": 1733, "referenceAllele": "A", "start": 323, "startIntronDirection": "-", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695984.1:c.245-1734A=" ], "proteinEffect": { "hgvs": "ENSP00000512309.1:n.245-1734A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907464" }, { "coordinates": [ { "allele": "A", "end": 2158, "referenceAllele": "A", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695986.1:c.*1667A=" ], "proteinEffect": { "hgvs": "ENSP00000512311.1:n.*1667A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907465" }, { "coordinates": [ { "allele": "A", "end": 2100, "referenceAllele": "A", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696025.1:n.2100A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS907502" }, { "coordinates": [ { "allele": "A", "end": 2098, "referenceAllele": "A", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696026.1:c.*298A=" ], "proteinEffect": { "hgvs": "ENSP00000512335.1:n.*298A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907503" }, { "coordinates": [ { "allele": "A", "end": 2100, "referenceAllele": "A", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696027.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512336.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907504" }, { "coordinates": [ { "allele": "A", "end": 2100, "referenceAllele": "A", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696028.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512337.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907505" }, { "coordinates": [ { "allele": "A", "end": 2100, "referenceAllele": "A", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696029.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512338.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907506" }, { "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "A", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696031.1:c.*1534A=" ], "proteinEffect": { "hgvs": "ENSP00000512340.1:n.*1534A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907508" }, { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "A", "start": 2281 } ], "hgvs": [ "ENST00000696032.1:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000512341.1:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907509" }, { "coordinates": [ { "allele": "A", "end": 1387, "endIntronDirection": "+", "endIntronOffset": 36998, "referenceAllele": "A", "start": 1387, "startIntronDirection": "+", "startIntronOffset": 36997 } ], "hgvs": [ "ENST00000696033.1:c.1159+36998A=" ], "proteinEffect": { "hgvs": "ENSP00000512342.1:n.1159+36998A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907510" }, { "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "A", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.9:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.2016A=" }, "RefSeq": { "hgvs": "NM_000186.4:c.2016A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Gln672=" }, "RefSeq": { "hgvs": "NP_000177.2:p.Gln672=" } } } }, { "coordinates": [ { "allele": "A", "end": 2256, "referenceAllele": "A", "start": 2255 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.8:c.2016A=" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266382" }, { "coordinates": [ { "allele": "A", "end": 4032, "referenceAllele": "A", "start": 4031 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000466229.5:n.4032A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS309651" }, { "@id": "http://reg.genome.network/allele/PA2825096664", "coordinates": [ { "allele": "A", "end": 2256, "referenceAllele": "A", "start": 2255 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.3:c.2016A=", "LRG_47t1:c.2016A=" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006248" }, { "coordinates": [ { "allele": "A", "end": 2202, "referenceAllele": "A", "start": 2201 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "XR_001737134.2:n.2202A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS587951" }, { "@id": "http://reg.genome.network/allele/PA2825096664", "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "A", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.4:c.2016A=" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Gln672=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674740", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.2016A=" }, "RefSeq": { "hgvs": "NM_000186.4:c.2016A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Gln672=" }, "RefSeq": { "hgvs": "NP_000177.2:p.Gln672=" } } } } ], "type": "nucleotide" }