Canonical Allele Identifier: CA2649647250

Gene: CFH

Linked Data

• gnomAD v4: 1-196747329-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747329G>A , CM000663.2:g.196747329G>A	GRCh38
NC_000001.10:g.196716459G>A , CM000663.1:g.196716459G>A	GRCh37
NC_000001.9:g.194983082G>A	NCBI36
NG_007259.1:g.100319G>A , LRG_47:g.100319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4740G>A
ENST00000695970.1:c.*16G>A	ENSP00000512297.1:n.*16G>A
ENST00000695971.1:c.*16G>A	ENSP00000512298.1:n.*16G>A
ENST00000695972.1:c.*789G>A	ENSP00000512299.1:n.*789G>A
ENST00000695973.1:c.*2076G>A	ENSP00000512300.1:n.*2076G>A
ENST00000695974.1:c.*16G>A	ENSP00000512301.1:n.*16G>A
ENST00000695975.1:c.*1839G>A	ENSP00000512302.1:n.*1839G>A
ENST00000695976.1:c.*16G>A	ENSP00000512303.1:n.*16G>A
ENST00000695981.1:c.3580+132G>A	ENSP00000512306.1:n.3580+132G>A
ENST00000695984.1:c.*16G>A	ENSP00000512309.1:n.*16G>A
ENST00000695986.1:c.*3363G>A	ENSP00000512311.1:n.*3363G>A
ENST00000695990.1:n.746G>A
ENST00000696026.1:c.*1994G>A	ENSP00000512335.1:n.*1994G>A
ENST00000696027.1:c.*16G>A	ENSP00000512336.1:n.*16G>A
ENST00000696028.1:c.*16G>A	ENSP00000512337.1:n.*16G>A
ENST00000696029.1:c.*16G>A	ENSP00000512338.1:n.*16G>A
ENST00000696031.1:c.*3230G>A	ENSP00000512340.1:n.*3230G>A
ENST00000696032.1:c.3580+132G>A	ENSP00000512341.1:n.3580+132G>A
ENST00000696033.1:c.1160-32468G>A	ENSP00000512342.1:n.1160-32468G>A
ENST00000367429.9:c.*16G>A MANE Select	ENSP00000356399.4:n.*16G>A
ENST00000367429.8:c.*16G>A	ENSP00000356399.4:n.*16G>A
ENST00000466229.5:n.6810G>A
NM_000186.3:c.*16G>A , LRG_47t1:c.*16G>A	NP_000177.2:n.*16G>A
XR_001737134.2:n.3898G>A
NM_000186.4:c.*16G>A MANE Select	NP_000177.2:n.*16G>A