Canonical Allele Identifier: CA126667
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 16560
ClinVar RCV Id: RCV000018028
dbSNP Id: rs121913061

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196690125C>T , CM000663.2:g.196690125C>T GRCh38
NC_000001.10:g.196659255C>T , CM000663.1:g.196659255C>T GRCh37
NC_000001.9:g.194925878C>T NCBI36
NG_007259.1:g.43115C>T , LRG_47:g.43115C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359637.3:c.1030C>T ENSP00000352658.2:p.Gln344Ter
ENST00000470918.2:n.1488C>T
ENST00000695968.1:c.1039C>T ENSP00000512295.1:p.Gln347Ter
ENST00000695969.1:c.1222C>T ENSP00000512296.1:p.Gln408Ter
ENST00000695970.1:c.1222C>T ENSP00000512297.1:p.Gln408Ter
ENST00000695971.1:c.1201C>T ENSP00000512298.1:p.Gln401Ter
ENST00000695972.1:c.1222C>T ENSP00000512299.1:p.Gln408Ter
ENST00000695973.1:c.1222C>T ENSP00000512300.1:p.Gln408Ter
ENST00000695974.1:c.1222C>T ENSP00000512301.1:p.Gln408Ter
ENST00000695975.1:c.1222C>T ENSP00000512302.1:p.Gln408Ter
ENST00000695976.1:c.1033C>T ENSP00000512303.1:p.Gln345Ter
ENST00000695977.1:n.63C>T
ENST00000695978.1:c.1222C>T ENSP00000512304.1:p.Gln408Ter
ENST00000695979.1:c.1201C>T ENSP00000512305.1:p.Gln401Ter
ENST00000695980.1:n.1342C>T
ENST00000695981.1:c.1222C>T ENSP00000512306.1:p.Gln408Ter
ENST00000695983.1:c.1222C>T ENSP00000512308.1:p.Gln408Ter
ENST00000695984.1:c.244+16962C>T ENSP00000512309.1:n.244+16962C>T
ENST00000695986.1:c.*873C>T ENSP00000512311.1:n.*873C>T
ENST00000695987.1:c.1033C>T ENSP00000512312.1:p.Gln345Ter
ENST00000696018.1:n.1306C>T
ENST00000696019.1:n.1306C>T
ENST00000696020.1:n.1306C>T
ENST00000696021.1:n.1285C>T
ENST00000696022.1:n.1306C>T
ENST00000696023.1:c.1222C>T ENSP00000512334.1:p.Gln408Ter
ENST00000696024.1:n.1306C>T
ENST00000696025.1:n.1306C>T
ENST00000696026.1:c.1222C>T ENSP00000512335.1:p.Gln408Ter
ENST00000696027.1:c.1222C>T ENSP00000512336.1:p.Gln408Ter
ENST00000696028.1:c.1222C>T ENSP00000512337.1:p.Gln408Ter
ENST00000696029.1:c.1222C>T ENSP00000512338.1:p.Gln408Ter
ENST00000696030.1:c.1147C>T ENSP00000512339.1:p.Gln383Ter
ENST00000696031.1:c.*740C>T ENSP00000512340.1:n.*740C>T
ENST00000696032.1:c.1222C>T ENSP00000512341.1:p.Gln408Ter
ENST00000696033.1:c.1159+511C>T ENSP00000512342.1:n.1159+511C>T
ENST00000367429.9:c.1222C>T MANE Select ENSP00000356399.4:p.Gln408Ter
ENST00000359637.2:c.1030C>T ENSP00000352658.2:p.Gln344Ter
ENST00000367429.8:c.1222C>T ENSP00000356399.4:p.Gln408Ter
ENST00000466229.5:n.3238C>T
ENST00000630130.2:c.1222C>T ENSP00000487250.1:p.Gln408Ter
NM_000186.3:c.1222C>T , LRG_47t1:c.1222C>T NP_000177.2:p.Gln408Ter
NM_001014975.2:c.1222C>T NP_001014975.1:p.Gln408Ter
XM_017001108.2:c.1222C>T XP_016856597.1:p.Gln408Ter
XR_001737134.2:n.1307C>T
NM_000186.4:c.1222C>T MANE Select NP_000177.2:p.Gln408Ter
NM_001014975.3:c.1222C>T NP_001014975.1:p.Gln408Ter