Canonical Allele Identifier: CA343983798

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712694A>C (hg19) ; chr1:g.196743564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743564A>C , CM000663.2:g.196743564A>C	GRCh38
NC_000001.10:g.196712694A>C , CM000663.1:g.196712694A>C	GRCh37
NC_000001.9:g.194979317A>C	NCBI36
NG_007259.1:g.96554A>C , LRG_47:g.96554A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4274A>C
ENST00000695970.1:c.3072A>C	ENSP00000512297.1:p.Glu1024Asp
ENST00000695971.1:c.3225A>C	ENSP00000512298.1:p.Glu1075Asp
ENST00000695972.1:c.*323A>C	ENSP00000512299.1:n.*323A>C
ENST00000695973.1:c.*1610A>C	ENSP00000512300.1:n.*1610A>C
ENST00000695974.1:c.3069A>C	ENSP00000512301.1:p.Glu1023Asp
ENST00000695975.1:c.*1373A>C	ENSP00000512302.1:n.*1373A>C
ENST00000695976.1:c.3057A>C	ENSP00000512303.1:p.Glu1019Asp
ENST00000695981.1:c.3246A>C	ENSP00000512306.1:p.Glu1082Asp
ENST00000695984.1:c.1254A>C	ENSP00000512309.1:p.Glu418Asp
ENST00000695986.1:c.*2897A>C	ENSP00000512311.1:n.*2897A>C
ENST00000696026.1:c.*1528A>C	ENSP00000512335.1:n.*1528A>C
ENST00000696027.1:c.3240A>C	ENSP00000512336.1:p.Glu1080Asp
ENST00000696028.1:c.3174A>C	ENSP00000512337.1:p.Glu1058Asp
ENST00000696029.1:c.3240A>C	ENSP00000512338.1:p.Glu1080Asp
ENST00000696031.1:c.*2764A>C	ENSP00000512340.1:n.*2764A>C
ENST00000696032.1:c.3246A>C	ENSP00000512341.1:p.Glu1082Asp
ENST00000696033.1:c.1160-36233A>C	ENSP00000512342.1:n.1160-36233A>C
ENST00000367429.9:c.3246A>C MANE Select	ENSP00000356399.4:p.Glu1082Asp
ENST00000367429.8:c.3246A>C	ENSP00000356399.4:p.Glu1082Asp
ENST00000466229.5:n.6344A>C
NM_000186.3:c.3246A>C , LRG_47t1:c.3246A>C	NP_000177.2:p.Glu1082Asp
XR_001737134.2:n.3432A>C
NM_000186.4:c.3246A>C MANE Select	NP_000177.2:p.Glu1082Asp