Canonical Allele Identifier: CA343987750
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747194A>C , CM000663.2:g.196747194A>C GRCh38
NC_000001.10:g.196716324A>C , CM000663.1:g.196716324A>C GRCh37
NC_000001.9:g.194982947A>C NCBI36
NG_007259.1:g.100184A>C , LRG_47:g.100184A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4605A>C
ENST00000695970.1:c.3403A>C ENSP00000512297.1:p.Thr1135Pro
ENST00000695971.1:c.3556A>C ENSP00000512298.1:p.Thr1186Pro
ENST00000695972.1:c.*654A>C ENSP00000512299.1:n.*654A>C
ENST00000695973.1:c.*1941A>C ENSP00000512300.1:n.*1941A>C
ENST00000695974.1:c.3400A>C ENSP00000512301.1:p.Thr1134Pro
ENST00000695975.1:c.*1704A>C ENSP00000512302.1:n.*1704A>C
ENST00000695976.1:c.3388A>C ENSP00000512303.1:p.Thr1130Pro
ENST00000695981.1:c.3577A>C ENSP00000512306.1:p.Thr1193Pro
ENST00000695984.1:c.1585A>C ENSP00000512309.1:p.Thr529Pro
ENST00000695986.1:c.*3228A>C ENSP00000512311.1:n.*3228A>C
ENST00000695990.1:n.611A>C
ENST00000696026.1:c.*1859A>C ENSP00000512335.1:n.*1859A>C
ENST00000696027.1:c.3571A>C ENSP00000512336.1:p.Thr1191Pro
ENST00000696028.1:c.3505A>C ENSP00000512337.1:p.Thr1169Pro
ENST00000696029.1:c.3571A>C ENSP00000512338.1:p.Thr1191Pro
ENST00000696031.1:c.*3095A>C ENSP00000512340.1:n.*3095A>C
ENST00000696032.1:c.3577A>C ENSP00000512341.1:p.Thr1193Pro
ENST00000696033.1:c.1160-32603A>C ENSP00000512342.1:n.1160-32603A>C
ENST00000367429.9:c.3577A>C MANE Select ENSP00000356399.4:p.Thr1193Pro
ENST00000367429.8:c.3577A>C ENSP00000356399.4:p.Thr1193Pro
ENST00000466229.5:n.6675A>C
NM_000186.3:c.3577A>C , LRG_47t1:c.3577A>C NP_000177.2:p.Thr1193Pro
XR_001737134.2:n.3763A>C
NM_000186.4:c.3577A>C MANE Select NP_000177.2:p.Thr1193Pro