Canonical Allele Identifier: CA343987394
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 988141
ClinVar RCV Id: RCV001328123
dbSNP Id: rs1653042358

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747163G>C , CM000663.2:g.196747163G>C GRCh38
NC_000001.10:g.196716293G>C , CM000663.1:g.196716293G>C GRCh37
NC_000001.9:g.194982916G>C NCBI36
NG_007259.1:g.100153G>C , LRG_47:g.100153G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4574G>C
ENST00000695970.1:c.3372G>C ENSP00000512297.1:p.Arg1124Ser
ENST00000695971.1:c.3525G>C ENSP00000512298.1:p.Arg1175Ser
ENST00000695972.1:c.*623G>C ENSP00000512299.1:n.*623G>C
ENST00000695973.1:c.*1910G>C ENSP00000512300.1:n.*1910G>C
ENST00000695974.1:c.3369G>C ENSP00000512301.1:p.Arg1123Ser
ENST00000695975.1:c.*1673G>C ENSP00000512302.1:n.*1673G>C
ENST00000695976.1:c.3357G>C ENSP00000512303.1:p.Arg1119Ser
ENST00000695981.1:c.3546G>C ENSP00000512306.1:p.Arg1182Ser
ENST00000695984.1:c.1554G>C ENSP00000512309.1:p.Arg518Ser
ENST00000695986.1:c.*3197G>C ENSP00000512311.1:n.*3197G>C
ENST00000695990.1:n.580G>C
ENST00000696026.1:c.*1828G>C ENSP00000512335.1:n.*1828G>C
ENST00000696027.1:c.3540G>C ENSP00000512336.1:p.Arg1180Ser
ENST00000696028.1:c.3474G>C ENSP00000512337.1:p.Arg1158Ser
ENST00000696029.1:c.3540G>C ENSP00000512338.1:p.Arg1180Ser
ENST00000696031.1:c.*3064G>C ENSP00000512340.1:n.*3064G>C
ENST00000696032.1:c.3546G>C ENSP00000512341.1:p.Arg1182Ser
ENST00000696033.1:c.1160-32634G>C ENSP00000512342.1:n.1160-32634G>C
ENST00000367429.9:c.3546G>C MANE Select ENSP00000356399.4:p.Arg1182Ser
ENST00000367429.8:c.3546G>C ENSP00000356399.4:p.Arg1182Ser
ENST00000466229.5:n.6644G>C
NM_000186.3:c.3546G>C , LRG_47t1:c.3546G>C NP_000177.2:p.Arg1182Ser
XR_001737134.2:n.3732G>C
NM_000186.4:c.3546G>C MANE Select NP_000177.2:p.Arg1182Ser