Canonical Allele Identifier: CA343982245
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196713878T>C , CM000663.2:g.196713878T>C GRCh38
NC_000001.10:g.196683008T>C , CM000663.1:g.196683008T>C GRCh37
NC_000001.9:g.194949631T>C NCBI36
NG_007259.1:g.66868T>C , LRG_47:g.66868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.1746T>C
ENST00000695969.1:c.1480T>C ENSP00000512296.1:p.Cys494Arg
ENST00000695970.1:c.1480T>C ENSP00000512297.1:p.Cys494Arg
ENST00000695971.1:c.1459T>C ENSP00000512298.1:p.Cys487Arg
ENST00000695972.1:c.1480T>C ENSP00000512299.1:p.Cys494Arg
ENST00000695973.1:c.1480T>C ENSP00000512300.1:p.Cys494Arg
ENST00000695974.1:c.1480T>C ENSP00000512301.1:p.Cys494Arg
ENST00000695975.1:c.1480T>C ENSP00000512302.1:p.Cys494Arg
ENST00000695976.1:c.1291T>C ENSP00000512303.1:p.Cys431Arg
ENST00000695981.1:c.1480T>C ENSP00000512306.1:p.Cys494Arg
ENST00000695983.1:c.1480T>C ENSP00000512308.1:p.Cys494Arg
ENST00000695984.1:c.245-14468T>C ENSP00000512309.1:n.245-14468T>C
ENST00000695986.1:c.*1131T>C ENSP00000512311.1:n.*1131T>C
ENST00000696024.1:n.1564T>C
ENST00000696025.1:n.1564T>C
ENST00000696026.1:c.1480T>C ENSP00000512335.1:p.Cys494Arg
ENST00000696027.1:c.1480T>C ENSP00000512336.1:p.Cys494Arg
ENST00000696028.1:c.1480T>C ENSP00000512337.1:p.Cys494Arg
ENST00000696029.1:c.1480T>C ENSP00000512338.1:p.Cys494Arg
ENST00000696031.1:c.*998T>C ENSP00000512340.1:n.*998T>C
ENST00000696032.1:c.1480T>C ENSP00000512341.1:p.Cys494Arg
ENST00000696033.1:c.1159+24264T>C ENSP00000512342.1:n.1159+24264T>C
ENST00000367429.9:c.1480T>C MANE Select ENSP00000356399.4:p.Cys494Arg
ENST00000367429.8:c.1480T>C ENSP00000356399.4:p.Cys494Arg
ENST00000466229.5:n.3496T>C
NM_000186.3:c.1480T>C , LRG_47t1:c.1480T>C NP_000177.2:p.Cys494Arg
XR_001737134.2:n.1565T>C
NM_000186.4:c.1480T>C MANE Select NP_000177.2:p.Cys494Arg