Canonical Allele Identifier: CA126670
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 16561
dbSNP Id: rs121913062

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196743552G>T , CM000663.2:g.196743552G>T GRCh38
NC_000001.10:g.196712682G>T , CM000663.1:g.196712682G>T GRCh37
NC_000001.9:g.194979305G>T NCBI36
NG_007259.1:g.96542G>T , LRG_47:g.96542G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4262G>T
ENST00000695970.1:c.3060G>T ENSP00000512297.1:p.Arg1020Ser
ENST00000695971.1:c.3213G>T ENSP00000512298.1:p.Arg1071Ser
ENST00000695972.1:c.*311G>T ENSP00000512299.1:n.*311G>T
ENST00000695973.1:c.*1598G>T ENSP00000512300.1:n.*1598G>T
ENST00000695974.1:c.3057G>T ENSP00000512301.1:p.Arg1019Ser
ENST00000695975.1:c.*1361G>T ENSP00000512302.1:n.*1361G>T
ENST00000695976.1:c.3045G>T ENSP00000512303.1:p.Arg1015Ser
ENST00000695981.1:c.3234G>T ENSP00000512306.1:p.Arg1078Ser
ENST00000695984.1:c.1242G>T ENSP00000512309.1:p.Arg414Ser
ENST00000695986.1:c.*2885G>T ENSP00000512311.1:n.*2885G>T
ENST00000696026.1:c.*1516G>T ENSP00000512335.1:n.*1516G>T
ENST00000696027.1:c.3228G>T ENSP00000512336.1:p.Arg1076Ser
ENST00000696028.1:c.3162G>T ENSP00000512337.1:p.Arg1054Ser
ENST00000696029.1:c.3228G>T ENSP00000512338.1:p.Arg1076Ser
ENST00000696031.1:c.*2752G>T ENSP00000512340.1:n.*2752G>T
ENST00000696032.1:c.3234G>T ENSP00000512341.1:p.Arg1078Ser
ENST00000696033.1:c.1160-36245G>T ENSP00000512342.1:n.1160-36245G>T
ENST00000367429.9:c.3234G>T MANE Select ENSP00000356399.4:p.Arg1078Ser
ENST00000367429.8:c.3234G>T ENSP00000356399.4:p.Arg1078Ser
ENST00000466229.5:n.6332G>T
NM_000186.3:c.3234G>T , LRG_47t1:c.3234G>T NP_000177.2:p.Arg1078Ser
XR_001737134.2:n.3420G>T
NM_000186.4:c.3234G>T MANE Select NP_000177.2:p.Arg1078Ser