Canonical Allele Identifier: CA35860689

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726582A>G , CM000663.2:g.196726582A>G	GRCh38
NC_000001.10:g.196695712A>G , CM000663.1:g.196695712A>G	GRCh37
NC_000001.9:g.194962335A>G	NCBI36
NG_007259.1:g.79572A>G , LRG_47:g.79572A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.1986A>G MANE Select	NP_000177.2:p.Arg662=
ENST00000367429.9:c.1986A>G MANE Select	ENSP00000356399.4:p.Arg662=
NM_000186.3:c.1986A>G , LRG_47t1:c.1986A>G	NP_000177.2:p.Arg662=
ENST00000367429.8:c.1986A>G	ENSP00000356399.4:p.Arg662=
ENST00000466229.5:n.4002A>G
ENST00000470918.2:n.2252A>G
ENST00000695969.1:c.1986A>G	ENSP00000512296.1:p.Arg662=
ENST00000695970.1:c.1986A>G	ENSP00000512297.1:p.Arg662=
ENST00000695971.1:c.1965A>G	ENSP00000512298.1:p.Arg655=
ENST00000695972.1:c.1986A>G	ENSP00000512299.1:p.Arg662=
ENST00000695973.1:c.*350A>G	ENSP00000512300.1:n.*350A>G
ENST00000695974.1:c.1809A>G	ENSP00000512301.1:p.Arg603=
ENST00000695975.1:c.*113A>G	ENSP00000512302.1:n.*113A>G
ENST00000695976.1:c.1797A>G	ENSP00000512303.1:p.Arg599=
ENST00000695981.1:c.1986A>G	ENSP00000512306.1:p.Arg662=
ENST00000695983.1:c.1986A>G	ENSP00000512308.1:p.Arg662=
ENST00000695984.1:c.245-1764A>G	ENSP00000512309.1:n.245-1764A>G
ENST00000695986.1:c.*1637A>G	ENSP00000512311.1:n.*1637A>G
ENST00000696025.1:n.2070A>G
ENST00000696026.1:c.*268A>G	ENSP00000512335.1:n.*268A>G
ENST00000696027.1:c.1986A>G	ENSP00000512336.1:p.Arg662=
ENST00000696028.1:c.1986A>G	ENSP00000512337.1:p.Arg662=
ENST00000696029.1:c.1986A>G	ENSP00000512338.1:p.Arg662=
ENST00000696031.1:c.*1504A>G	ENSP00000512340.1:n.*1504A>G
ENST00000696032.1:c.1986A>G	ENSP00000512341.1:p.Arg662=
ENST00000696033.1:c.1159+36968A>G	ENSP00000512342.1:n.1159+36968A>G
XR_001737134.2:n.2172A>G