Canonical Allele Identifier: CA343983948

Gene: CFH

Linked Data

• gnomAD v3: 1-196743589-T-C
• gnomAD v4: 1-196743589-T-C
• MyVariant Identifiers: chr1:g.196712719T>C (hg19) ; chr1:g.196743589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743589T>C , CM000663.2:g.196743589T>C	GRCh38
NC_000001.10:g.196712719T>C , CM000663.1:g.196712719T>C	GRCh37
NC_000001.9:g.194979342T>C	NCBI36
NG_007259.1:g.96579T>C , LRG_47:g.96579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4299T>C
ENST00000695970.1:c.3097T>C	ENSP00000512297.1:p.Cys1033Arg
ENST00000695971.1:c.3250T>C	ENSP00000512298.1:p.Cys1084Arg
ENST00000695972.1:c.*348T>C	ENSP00000512299.1:n.*348T>C
ENST00000695973.1:c.*1635T>C	ENSP00000512300.1:n.*1635T>C
ENST00000695974.1:c.3094T>C	ENSP00000512301.1:p.Cys1032Arg
ENST00000695975.1:c.*1398T>C	ENSP00000512302.1:n.*1398T>C
ENST00000695976.1:c.3082T>C	ENSP00000512303.1:p.Cys1028Arg
ENST00000695981.1:c.3271T>C	ENSP00000512306.1:p.Cys1091Arg
ENST00000695984.1:c.1279T>C	ENSP00000512309.1:p.Cys427Arg
ENST00000695986.1:c.*2922T>C	ENSP00000512311.1:n.*2922T>C
ENST00000696026.1:c.*1553T>C	ENSP00000512335.1:n.*1553T>C
ENST00000696027.1:c.3265T>C	ENSP00000512336.1:p.Cys1089Arg
ENST00000696028.1:c.3199T>C	ENSP00000512337.1:p.Cys1067Arg
ENST00000696029.1:c.3265T>C	ENSP00000512338.1:p.Cys1089Arg
ENST00000696031.1:c.*2789T>C	ENSP00000512340.1:n.*2789T>C
ENST00000696032.1:c.3271T>C	ENSP00000512341.1:p.Cys1091Arg
ENST00000696033.1:c.1160-36208T>C	ENSP00000512342.1:n.1160-36208T>C
ENST00000367429.9:c.3271T>C MANE Select	ENSP00000356399.4:p.Cys1091Arg
ENST00000367429.8:c.3271T>C	ENSP00000356399.4:p.Cys1091Arg
ENST00000466229.5:n.6369T>C
NM_000186.3:c.3271T>C , LRG_47t1:c.3271T>C	NP_000177.2:p.Cys1091Arg
XR_001737134.2:n.3457T>C
NM_000186.4:c.3271T>C MANE Select	NP_000177.2:p.Cys1091Arg