Canonical Allele Identifier: CA343987731

Gene: CFH

Linked Data

• gnomAD v4: 1-196747192-G-A
• MyVariant Identifiers: chr1:g.196716322G>A (hg19) ; chr1:g.196747192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747192G>A , CM000663.2:g.196747192G>A	GRCh38
NC_000001.10:g.196716322G>A , CM000663.1:g.196716322G>A	GRCh37
NC_000001.9:g.194982945G>A	NCBI36
NG_007259.1:g.100182G>A , LRG_47:g.100182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4603G>A
ENST00000695970.1:c.3401G>A	ENSP00000512297.1:p.Arg1134Lys
ENST00000695971.1:c.3554G>A	ENSP00000512298.1:p.Arg1185Lys
ENST00000695972.1:c.*652G>A	ENSP00000512299.1:n.*652G>A
ENST00000695973.1:c.*1939G>A	ENSP00000512300.1:n.*1939G>A
ENST00000695974.1:c.3398G>A	ENSP00000512301.1:p.Arg1133Lys
ENST00000695975.1:c.*1702G>A	ENSP00000512302.1:n.*1702G>A
ENST00000695976.1:c.3386G>A	ENSP00000512303.1:p.Arg1129Lys
ENST00000695981.1:c.3575G>A	ENSP00000512306.1:p.Arg1192Lys
ENST00000695984.1:c.1583G>A	ENSP00000512309.1:p.Arg528Lys
ENST00000695986.1:c.*3226G>A	ENSP00000512311.1:n.*3226G>A
ENST00000695990.1:n.609G>A
ENST00000696026.1:c.*1857G>A	ENSP00000512335.1:n.*1857G>A
ENST00000696027.1:c.3569G>A	ENSP00000512336.1:p.Arg1190Lys
ENST00000696028.1:c.3503G>A	ENSP00000512337.1:p.Arg1168Lys
ENST00000696029.1:c.3569G>A	ENSP00000512338.1:p.Arg1190Lys
ENST00000696031.1:c.*3093G>A	ENSP00000512340.1:n.*3093G>A
ENST00000696032.1:c.3575G>A	ENSP00000512341.1:p.Arg1192Lys
ENST00000696033.1:c.1160-32605G>A	ENSP00000512342.1:n.1160-32605G>A
ENST00000367429.9:c.3575G>A MANE Select	ENSP00000356399.4:p.Arg1192Lys
ENST00000367429.8:c.3575G>A	ENSP00000356399.4:p.Arg1192Lys
ENST00000466229.5:n.6673G>A
NM_000186.3:c.3575G>A , LRG_47t1:c.3575G>A	NP_000177.2:p.Arg1192Lys
XR_001737134.2:n.3761G>A
NM_000186.4:c.3575G>A MANE Select	NP_000177.2:p.Arg1192Lys