Canonical Allele Identifier: CA343981428

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196711052G>A (hg19) ; chr1:g.196741922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196741922G>A , CM000663.2:g.196741922G>A	GRCh38
NC_000001.10:g.196711052G>A , CM000663.1:g.196711052G>A	GRCh37
NC_000001.9:g.194977675G>A	NCBI36
NG_007259.1:g.94912G>A , LRG_47:g.94912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4032G>A
ENST00000695970.1:c.2830G>A	ENSP00000512297.1:p.Gly944Arg
ENST00000695971.1:c.2983G>A	ENSP00000512298.1:p.Gly995Arg
ENST00000695972.1:c.*81G>A	ENSP00000512299.1:n.*81G>A
ENST00000695973.1:c.*1368G>A	ENSP00000512300.1:n.*1368G>A
ENST00000695974.1:c.2827G>A	ENSP00000512301.1:p.Gly943Arg
ENST00000695975.1:c.*1131G>A	ENSP00000512302.1:n.*1131G>A
ENST00000695976.1:c.2815G>A	ENSP00000512303.1:p.Gly939Arg
ENST00000695981.1:c.3004G>A	ENSP00000512306.1:p.Gly1002Arg
ENST00000695983.1:c.2910G>A	ENSP00000512308.1:p.Trp970Ter
ENST00000695984.1:c.1012G>A	ENSP00000512309.1:p.Gly338Arg
ENST00000695986.1:c.*2655G>A	ENSP00000512311.1:n.*2655G>A
ENST00000696026.1:c.*1286G>A	ENSP00000512335.1:n.*1286G>A
ENST00000696027.1:c.2998G>A	ENSP00000512336.1:p.Gly1000Arg
ENST00000696028.1:c.2932G>A	ENSP00000512337.1:p.Gly978Arg
ENST00000696029.1:c.2998G>A	ENSP00000512338.1:p.Gly1000Arg
ENST00000696031.1:c.*2522G>A	ENSP00000512340.1:n.*2522G>A
ENST00000696032.1:c.3004G>A	ENSP00000512341.1:p.Gly1002Arg
ENST00000696033.1:c.1160-37875G>A	ENSP00000512342.1:n.1160-37875G>A
ENST00000367429.9:c.3004G>A MANE Select	ENSP00000356399.4:p.Gly1002Arg
ENST00000367429.8:c.3004G>A	ENSP00000356399.4:p.Gly1002Arg
ENST00000466229.5:n.6102G>A
NM_000186.3:c.3004G>A , LRG_47t1:c.3004G>A	NP_000177.2:p.Gly1002Arg
XR_001737134.2:n.3190G>A
NM_000186.4:c.3004G>A MANE Select	NP_000177.2:p.Gly1002Arg