Canonical Allele Identifier: CA422663873

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716434A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747304A>C , CM000663.2:g.196747304A>C	GRCh38
NC_000001.10:g.196716434A>C , CM000663.1:g.196716434A>C	GRCh37
NC_000001.9:g.194983057A>C	NCBI36
NG_007259.1:g.100294A>C , LRG_47:g.100294A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4715A>C
ENST00000695970.1:c.3513A>C	ENSP00000512297.1:p.Ala1171=
ENST00000695971.1:c.3666A>C	ENSP00000512298.1:p.Ala1222=
ENST00000695972.1:c.*764A>C	ENSP00000512299.1:n.*764A>C
ENST00000695973.1:c.*2051A>C	ENSP00000512300.1:n.*2051A>C
ENST00000695974.1:c.3510A>C	ENSP00000512301.1:p.Ala1170=
ENST00000695975.1:c.*1814A>C	ENSP00000512302.1:n.*1814A>C
ENST00000695976.1:c.3498A>C	ENSP00000512303.1:p.Ala1166=
ENST00000695981.1:c.3580+107A>C	ENSP00000512306.1:n.3580+107A>C
ENST00000695984.1:c.1695A>C	ENSP00000512309.1:p.Ala565=
ENST00000695986.1:c.*3338A>C	ENSP00000512311.1:n.*3338A>C
ENST00000695990.1:n.721A>C
ENST00000696026.1:c.*1969A>C	ENSP00000512335.1:n.*1969A>C
ENST00000696027.1:c.3681A>C	ENSP00000512336.1:p.Ala1227=
ENST00000696028.1:c.3615A>C	ENSP00000512337.1:p.Ala1205=
ENST00000696029.1:c.3681A>C	ENSP00000512338.1:p.Ala1227=
ENST00000696031.1:c.*3205A>C	ENSP00000512340.1:n.*3205A>C
ENST00000696032.1:c.3580+107A>C	ENSP00000512341.1:n.3580+107A>C
ENST00000696033.1:c.1160-32493A>C	ENSP00000512342.1:n.1160-32493A>C
ENST00000367429.9:c.3687A>C MANE Select	ENSP00000356399.4:p.Ala1229=
ENST00000367429.8:c.3687A>C	ENSP00000356399.4:p.Ala1229=
ENST00000466229.5:n.6785A>C
NM_000186.3:c.3687A>C , LRG_47t1:c.3687A>C	NP_000177.2:p.Ala1229=
XR_001737134.2:n.3873A>C
NM_000186.4:c.3687A>C MANE Select	NP_000177.2:p.Ala1229=