Canonical Allele Identifier: CA343987688
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747188T>A , CM000663.2:g.196747188T>A GRCh38
NC_000001.10:g.196716318T>A , CM000663.1:g.196716318T>A GRCh37
NC_000001.9:g.194982941T>A NCBI36
NG_007259.1:g.100178T>A , LRG_47:g.100178T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4599T>A
ENST00000695970.1:c.3397T>A ENSP00000512297.1:p.Ser1133Thr
ENST00000695971.1:c.3550T>A ENSP00000512298.1:p.Ser1184Thr
ENST00000695972.1:c.*648T>A ENSP00000512299.1:n.*648T>A
ENST00000695973.1:c.*1935T>A ENSP00000512300.1:n.*1935T>A
ENST00000695974.1:c.3394T>A ENSP00000512301.1:p.Ser1132Thr
ENST00000695975.1:c.*1698T>A ENSP00000512302.1:n.*1698T>A
ENST00000695976.1:c.3382T>A ENSP00000512303.1:p.Ser1128Thr
ENST00000695981.1:c.3571T>A ENSP00000512306.1:p.Ser1191Thr
ENST00000695984.1:c.1579T>A ENSP00000512309.1:p.Ser527Thr
ENST00000695986.1:c.*3222T>A ENSP00000512311.1:n.*3222T>A
ENST00000695990.1:n.605T>A
ENST00000696026.1:c.*1853T>A ENSP00000512335.1:n.*1853T>A
ENST00000696027.1:c.3565T>A ENSP00000512336.1:p.Ser1189Thr
ENST00000696028.1:c.3499T>A ENSP00000512337.1:p.Ser1167Thr
ENST00000696029.1:c.3565T>A ENSP00000512338.1:p.Ser1189Thr
ENST00000696031.1:c.*3089T>A ENSP00000512340.1:n.*3089T>A
ENST00000696032.1:c.3571T>A ENSP00000512341.1:p.Ser1191Thr
ENST00000696033.1:c.1160-32609T>A ENSP00000512342.1:n.1160-32609T>A
ENST00000367429.9:c.3571T>A MANE Select ENSP00000356399.4:p.Ser1191Thr
ENST00000367429.8:c.3571T>A ENSP00000356399.4:p.Ser1191Thr
ENST00000466229.5:n.6669T>A
NM_000186.3:c.3571T>A , LRG_47t1:c.3571T>A NP_000177.2:p.Ser1191Thr
XR_001737134.2:n.3757T>A
NM_000186.4:c.3571T>A MANE Select NP_000177.2:p.Ser1191Thr