Canonical Allele Identifier: CA10821110
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 1258057
ClinVar RCV Id: RCV001669003
dbSNP Id: rs203674

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196715495G>T , CM000663.2:g.196715495G>T GRCh38
NC_000001.10:g.196684625G>T , CM000663.1:g.196684625G>T GRCh37
NC_000001.9:g.194951248G>T NCBI36
NG_007259.1:g.68485G>T , LRG_47:g.68485G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.1786-98G>T
ENST00000695969.1:c.1520-98G>T ENSP00000512296.1:n.1520-98G>T
ENST00000695970.1:c.1520-98G>T ENSP00000512297.1:n.1520-98G>T
ENST00000695971.1:c.1499-98G>T ENSP00000512298.1:n.1499-98G>T
ENST00000695972.1:c.1520-98G>T ENSP00000512299.1:n.1520-98G>T
ENST00000695973.1:c.1520-98G>T ENSP00000512300.1:n.1520-98G>T
ENST00000695974.1:c.1520-98G>T ENSP00000512301.1:n.1520-98G>T
ENST00000695975.1:c.1520-98G>T ENSP00000512302.1:n.1520-98G>T
ENST00000695976.1:c.1331-98G>T ENSP00000512303.1:n.1331-98G>T
ENST00000695981.1:c.1520-98G>T ENSP00000512306.1:n.1520-98G>T
ENST00000695983.1:c.1520-98G>T ENSP00000512308.1:n.1520-98G>T
ENST00000695984.1:c.245-12851G>T ENSP00000512309.1:n.245-12851G>T
ENST00000695986.1:c.*1171-98G>T ENSP00000512311.1:n.*1171-98G>T
ENST00000696024.1:n.1604-98G>T
ENST00000696025.1:n.1604-98G>T
ENST00000696026.1:c.1520-98G>T ENSP00000512335.1:n.1520-98G>T
ENST00000696027.1:c.1520-98G>T ENSP00000512336.1:n.1520-98G>T
ENST00000696028.1:c.1520-98G>T ENSP00000512337.1:n.1520-98G>T
ENST00000696029.1:c.1520-98G>T ENSP00000512338.1:n.1520-98G>T
ENST00000696031.1:c.*1038-98G>T ENSP00000512340.1:n.*1038-98G>T
ENST00000696032.1:c.1520-98G>T ENSP00000512341.1:n.1520-98G>T
ENST00000696033.1:c.1159+25881G>T ENSP00000512342.1:n.1159+25881G>T
ENST00000367429.9:c.1520-98G>T MANE Select ENSP00000356399.4:n.1520-98G>T
ENST00000367429.8:c.1520-98G>T ENSP00000356399.4:n.1520-98G>T
ENST00000466229.5:n.3536-98G>T
NM_000186.3:c.1520-98G>T , LRG_47t1:c.1520-98G>T NP_000177.2:n.1520-98G>T
XR_001737134.2:n.1605-98G>T
NM_000186.4:c.1520-98G>T MANE Select NP_000177.2:n.1520-98G>T