Canonical Allele Identifier: CA343983197

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712626G>A (hg19) ; chr1:g.196743496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743496G>A , CM000663.2:g.196743496G>A	GRCh38
NC_000001.10:g.196712626G>A , CM000663.1:g.196712626G>A	GRCh37
NC_000001.9:g.194979249G>A	NCBI36
NG_007259.1:g.96486G>A , LRG_47:g.96486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4206G>A
ENST00000695970.1:c.3004G>A	ENSP00000512297.1:p.Val1002Met
ENST00000695971.1:c.3157G>A	ENSP00000512298.1:p.Val1053Met
ENST00000695972.1:c.*255G>A	ENSP00000512299.1:n.*255G>A
ENST00000695973.1:c.*1542G>A	ENSP00000512300.1:n.*1542G>A
ENST00000695974.1:c.3001G>A	ENSP00000512301.1:p.Val1001Met
ENST00000695975.1:c.*1305G>A	ENSP00000512302.1:n.*1305G>A
ENST00000695976.1:c.2989G>A	ENSP00000512303.1:p.Val997Met
ENST00000695981.1:c.3178G>A	ENSP00000512306.1:p.Val1060Met
ENST00000695984.1:c.1186G>A	ENSP00000512309.1:p.Val396Met
ENST00000695986.1:c.*2829G>A	ENSP00000512311.1:n.*2829G>A
ENST00000696026.1:c.*1460G>A	ENSP00000512335.1:n.*1460G>A
ENST00000696027.1:c.3172G>A	ENSP00000512336.1:p.Val1058Met
ENST00000696028.1:c.3106G>A	ENSP00000512337.1:p.Val1036Met
ENST00000696029.1:c.3172G>A	ENSP00000512338.1:p.Val1058Met
ENST00000696031.1:c.*2696G>A	ENSP00000512340.1:n.*2696G>A
ENST00000696032.1:c.3178G>A	ENSP00000512341.1:p.Val1060Met
ENST00000696033.1:c.1160-36301G>A	ENSP00000512342.1:n.1160-36301G>A
ENST00000367429.9:c.3178G>A MANE Select	ENSP00000356399.4:p.Val1060Met
ENST00000367429.8:c.3178G>A	ENSP00000356399.4:p.Val1060Met
ENST00000466229.5:n.6276G>A
NM_000186.3:c.3178G>A , LRG_47t1:c.3178G>A	NP_000177.2:p.Val1060Met
XR_001737134.2:n.3364G>A
NM_000186.4:c.3178G>A MANE Select	NP_000177.2:p.Val1060Met