Canonical Allele Identifier: CA1305473

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196725159G>A , CM000663.2:g.196725159G>A	GRCh38
NC_000001.10:g.196694289G>A , CM000663.1:g.196694289G>A	GRCh37
NC_000001.9:g.194960912G>A	NCBI36
NG_007259.1:g.78149G>A , LRG_47:g.78149G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.1735G>A MANE Select	NP_000177.2:p.Val579Ile
ENST00000367429.9:c.1735G>A MANE Select	ENSP00000356399.4:p.Val579Ile
NM_000186.3:c.1735G>A , LRG_47t1:c.1735G>A	NP_000177.2:p.Val579Ile
ENST00000367429.8:c.1735G>A	ENSP00000356399.4:p.Val579Ile
ENST00000466229.5:n.3751G>A
ENST00000470918.2:n.2001G>A
ENST00000695969.1:c.1735G>A	ENSP00000512296.1:p.Val579Ile
ENST00000695970.1:c.1735G>A	ENSP00000512297.1:p.Val579Ile
ENST00000695971.1:c.1714G>A	ENSP00000512298.1:p.Val572Ile
ENST00000695972.1:c.1735G>A	ENSP00000512299.1:p.Val579Ile
ENST00000695973.1:c.*99G>A	ENSP00000512300.1:n.*99G>A
ENST00000695974.1:c.1697-1311G>A	ENSP00000512301.1:n.1697-1311G>A
ENST00000695975.1:c.1735G>A	ENSP00000512302.1:p.Val579Ile
ENST00000695976.1:c.1546G>A	ENSP00000512303.1:p.Val516Ile
ENST00000695981.1:c.1735G>A	ENSP00000512306.1:p.Val579Ile
ENST00000695983.1:c.1735G>A	ENSP00000512308.1:p.Val579Ile
ENST00000695984.1:c.245-3187G>A	ENSP00000512309.1:n.245-3187G>A
ENST00000695986.1:c.*1386G>A	ENSP00000512311.1:n.*1386G>A
ENST00000696025.1:n.1819G>A
ENST00000696026.1:c.*17G>A	ENSP00000512335.1:n.*17G>A
ENST00000696027.1:c.1735G>A	ENSP00000512336.1:p.Val579Ile
ENST00000696028.1:c.1735G>A	ENSP00000512337.1:p.Val579Ile
ENST00000696029.1:c.1735G>A	ENSP00000512338.1:p.Val579Ile
ENST00000696031.1:c.*1253G>A	ENSP00000512340.1:n.*1253G>A
ENST00000696032.1:c.1735G>A	ENSP00000512341.1:p.Val579Ile
ENST00000696033.1:c.1159+35545G>A	ENSP00000512342.1:n.1159+35545G>A
XR_001737134.2:n.1921G>A