Canonical Allele Identifier: CA343984046
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1272708823

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196743606G>T , CM000663.2:g.196743606G>T GRCh38
NC_000001.10:g.196712736G>T , CM000663.1:g.196712736G>T GRCh37
NC_000001.9:g.194979359G>T NCBI36
NG_007259.1:g.96596G>T , LRG_47:g.96596G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.4316G>T
ENST00000695970.1:c.3114G>T ENSP00000512297.1:p.Trp1038Cys
ENST00000695971.1:c.3267G>T ENSP00000512298.1:p.Trp1089Cys
ENST00000695972.1:c.*365G>T ENSP00000512299.1:n.*365G>T
ENST00000695973.1:c.*1652G>T ENSP00000512300.1:n.*1652G>T
ENST00000695974.1:c.3111G>T ENSP00000512301.1:p.Trp1037Cys
ENST00000695975.1:c.*1415G>T ENSP00000512302.1:n.*1415G>T
ENST00000695976.1:c.3099G>T ENSP00000512303.1:p.Trp1033Cys
ENST00000695981.1:c.3288G>T ENSP00000512306.1:p.Trp1096Cys
ENST00000695984.1:c.1296G>T ENSP00000512309.1:p.Trp432Cys
ENST00000695986.1:c.*2939G>T ENSP00000512311.1:n.*2939G>T
ENST00000696026.1:c.*1570G>T ENSP00000512335.1:n.*1570G>T
ENST00000696027.1:c.3282G>T ENSP00000512336.1:p.Trp1094Cys
ENST00000696028.1:c.3216G>T ENSP00000512337.1:p.Trp1072Cys
ENST00000696029.1:c.3282G>T ENSP00000512338.1:p.Trp1094Cys
ENST00000696031.1:c.*2806G>T ENSP00000512340.1:n.*2806G>T
ENST00000696032.1:c.3288G>T ENSP00000512341.1:p.Trp1096Cys
ENST00000696033.1:c.1160-36191G>T ENSP00000512342.1:n.1160-36191G>T
ENST00000367429.9:c.3288G>T MANE Select ENSP00000356399.4:p.Trp1096Cys
ENST00000367429.8:c.3288G>T ENSP00000356399.4:p.Trp1096Cys
ENST00000466229.5:n.6386G>T
NM_000186.3:c.3288G>T , LRG_47t1:c.3288G>T NP_000177.2:p.Trp1096Cys
XR_001737134.2:n.3474G>T
NM_000186.4:c.3288G>T MANE Select NP_000177.2:p.Trp1096Cys