Canonical Allele Identifier: CA343987453
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1290775699

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747167A>T , CM000663.2:g.196747167A>T GRCh38
NC_000001.10:g.196716297A>T , CM000663.1:g.196716297A>T GRCh37
NC_000001.9:g.194982920A>T NCBI36
NG_007259.1:g.100157A>T , LRG_47:g.100157A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4578A>T
ENST00000695970.1:c.3376A>T ENSP00000512297.1:p.Thr1126Ser
ENST00000695971.1:c.3529A>T ENSP00000512298.1:p.Thr1177Ser
ENST00000695972.1:c.*627A>T ENSP00000512299.1:n.*627A>T
ENST00000695973.1:c.*1914A>T ENSP00000512300.1:n.*1914A>T
ENST00000695974.1:c.3373A>T ENSP00000512301.1:p.Thr1125Ser
ENST00000695975.1:c.*1677A>T ENSP00000512302.1:n.*1677A>T
ENST00000695976.1:c.3361A>T ENSP00000512303.1:p.Thr1121Ser
ENST00000695981.1:c.3550A>T ENSP00000512306.1:p.Thr1184Ser
ENST00000695984.1:c.1558A>T ENSP00000512309.1:p.Thr520Ser
ENST00000695986.1:c.*3201A>T ENSP00000512311.1:n.*3201A>T
ENST00000695990.1:n.584A>T
ENST00000696026.1:c.*1832A>T ENSP00000512335.1:n.*1832A>T
ENST00000696027.1:c.3544A>T ENSP00000512336.1:p.Thr1182Ser
ENST00000696028.1:c.3478A>T ENSP00000512337.1:p.Thr1160Ser
ENST00000696029.1:c.3544A>T ENSP00000512338.1:p.Thr1182Ser
ENST00000696031.1:c.*3068A>T ENSP00000512340.1:n.*3068A>T
ENST00000696032.1:c.3550A>T ENSP00000512341.1:p.Thr1184Ser
ENST00000696033.1:c.1160-32630A>T ENSP00000512342.1:n.1160-32630A>T
ENST00000367429.9:c.3550A>T MANE Select ENSP00000356399.4:p.Thr1184Ser
ENST00000367429.8:c.3550A>T ENSP00000356399.4:p.Thr1184Ser
ENST00000466229.5:n.6648A>T
NM_000186.3:c.3550A>T , LRG_47t1:c.3550A>T NP_000177.2:p.Thr1184Ser
XR_001737134.2:n.3736A>T
NM_000186.4:c.3550A>T MANE Select NP_000177.2:p.Thr1184Ser