Canonical Allele Identifier: CA343988167

Gene: CFH

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726612A>C , CM000663.2:g.196726612A>C	GRCh38
NC_000001.10:g.196695742A>C , CM000663.1:g.196695742A>C	GRCh37
NC_000001.9:g.194962365A>C	NCBI36
NG_007259.1:g.79602A>C , LRG_47:g.79602A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2282A>C
ENST00000695969.1:c.2016A>C	ENSP00000512296.1:p.Gln672His
ENST00000695970.1:c.2016A>C	ENSP00000512297.1:p.Gln672His
ENST00000695971.1:c.1995A>C	ENSP00000512298.1:p.Gln665His
ENST00000695972.1:c.2016A>C	ENSP00000512299.1:p.Gln672His
ENST00000695973.1:c.*380A>C	ENSP00000512300.1:n.*380A>C
ENST00000695974.1:c.1839A>C	ENSP00000512301.1:p.Gln613His
ENST00000695975.1:c.*143A>C	ENSP00000512302.1:n.*143A>C
ENST00000695976.1:c.1827A>C	ENSP00000512303.1:p.Gln609His
ENST00000695981.1:c.2016A>C	ENSP00000512306.1:p.Gln672His
ENST00000695983.1:c.2016A>C	ENSP00000512308.1:p.Gln672His
ENST00000695984.1:c.245-1734A>C	ENSP00000512309.1:n.245-1734A>C
ENST00000695986.1:c.*1667A>C	ENSP00000512311.1:n.*1667A>C
ENST00000696025.1:n.2100A>C
ENST00000696026.1:c.*298A>C	ENSP00000512335.1:n.*298A>C
ENST00000696027.1:c.2016A>C	ENSP00000512336.1:p.Gln672His
ENST00000696028.1:c.2016A>C	ENSP00000512337.1:p.Gln672His
ENST00000696029.1:c.2016A>C	ENSP00000512338.1:p.Gln672His
ENST00000696031.1:c.*1534A>C	ENSP00000512340.1:n.*1534A>C
ENST00000696032.1:c.2016A>C	ENSP00000512341.1:p.Gln672His
ENST00000696033.1:c.1159+36998A>C	ENSP00000512342.1:n.1159+36998A>C
ENST00000367429.9:c.2016A>C MANE Select	ENSP00000356399.4:p.Gln672His
ENST00000367429.8:c.2016A>C	ENSP00000356399.4:p.Gln672His
ENST00000466229.5:n.4032A>C
NM_000186.3:c.2016A>C , LRG_47t1:c.2016A>C	NP_000177.2:p.Gln672His
XR_001737134.2:n.2202A>C
NM_000186.4:c.2016A>C MANE Select	NP_000177.2:p.Gln672His