Canonical Allele Identifier: CA422662960

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712730A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743600A>C , CM000663.2:g.196743600A>C	GRCh38
NC_000001.10:g.196712730A>C , CM000663.1:g.196712730A>C	GRCh37
NC_000001.9:g.194979353A>C	NCBI36
NG_007259.1:g.96590A>C , LRG_47:g.96590A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4310A>C
ENST00000695970.1:c.3108A>C	ENSP00000512297.1:p.Gly1036=
ENST00000695971.1:c.3261A>C	ENSP00000512298.1:p.Gly1087=
ENST00000695972.1:c.*359A>C	ENSP00000512299.1:n.*359A>C
ENST00000695973.1:c.*1646A>C	ENSP00000512300.1:n.*1646A>C
ENST00000695974.1:c.3105A>C	ENSP00000512301.1:p.Gly1035=
ENST00000695975.1:c.*1409A>C	ENSP00000512302.1:n.*1409A>C
ENST00000695976.1:c.3093A>C	ENSP00000512303.1:p.Gly1031=
ENST00000695981.1:c.3282A>C	ENSP00000512306.1:p.Gly1094=
ENST00000695984.1:c.1290A>C	ENSP00000512309.1:p.Gly430=
ENST00000695986.1:c.*2933A>C	ENSP00000512311.1:n.*2933A>C
ENST00000696026.1:c.*1564A>C	ENSP00000512335.1:n.*1564A>C
ENST00000696027.1:c.3276A>C	ENSP00000512336.1:p.Gly1092=
ENST00000696028.1:c.3210A>C	ENSP00000512337.1:p.Gly1070=
ENST00000696029.1:c.3276A>C	ENSP00000512338.1:p.Gly1092=
ENST00000696031.1:c.*2800A>C	ENSP00000512340.1:n.*2800A>C
ENST00000696032.1:c.3282A>C	ENSP00000512341.1:p.Gly1094=
ENST00000696033.1:c.1160-36197A>C	ENSP00000512342.1:n.1160-36197A>C
ENST00000367429.9:c.3282A>C MANE Select	ENSP00000356399.4:p.Gly1094=
ENST00000367429.8:c.3282A>C	ENSP00000356399.4:p.Gly1094=
ENST00000466229.5:n.6380A>C
NM_000186.3:c.3282A>C , LRG_47t1:c.3282A>C	NP_000177.2:p.Gly1094=
XR_001737134.2:n.3468A>C
NM_000186.4:c.3282A>C MANE Select	NP_000177.2:p.Gly1094=