Canonical Allele Identifier: CA422662864

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712607A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743477A>C , CM000663.2:g.196743477A>C	GRCh38
NC_000001.10:g.196712607A>C , CM000663.1:g.196712607A>C	GRCh37
NC_000001.9:g.194979230A>C	NCBI36
NG_007259.1:g.96467A>C , LRG_47:g.96467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4187A>C
ENST00000695970.1:c.2985A>C	ENSP00000512297.1:p.Thr995=
ENST00000695971.1:c.3138A>C	ENSP00000512298.1:p.Thr1046=
ENST00000695972.1:c.*236A>C	ENSP00000512299.1:n.*236A>C
ENST00000695973.1:c.*1523A>C	ENSP00000512300.1:n.*1523A>C
ENST00000695974.1:c.2982A>C	ENSP00000512301.1:p.Thr994=
ENST00000695975.1:c.*1286A>C	ENSP00000512302.1:n.*1286A>C
ENST00000695976.1:c.2970A>C	ENSP00000512303.1:p.Thr990=
ENST00000695981.1:c.3159A>C	ENSP00000512306.1:p.Thr1053=
ENST00000695984.1:c.1167A>C	ENSP00000512309.1:p.Thr389=
ENST00000695986.1:c.*2810A>C	ENSP00000512311.1:n.*2810A>C
ENST00000696026.1:c.*1441A>C	ENSP00000512335.1:n.*1441A>C
ENST00000696027.1:c.3153A>C	ENSP00000512336.1:p.Thr1051=
ENST00000696028.1:c.3087A>C	ENSP00000512337.1:p.Thr1029=
ENST00000696029.1:c.3153A>C	ENSP00000512338.1:p.Thr1051=
ENST00000696031.1:c.*2677A>C	ENSP00000512340.1:n.*2677A>C
ENST00000696032.1:c.3159A>C	ENSP00000512341.1:p.Thr1053=
ENST00000696033.1:c.1160-36320A>C	ENSP00000512342.1:n.1160-36320A>C
ENST00000367429.9:c.3159A>C MANE Select	ENSP00000356399.4:p.Thr1053=
ENST00000367429.8:c.3159A>C	ENSP00000356399.4:p.Thr1053=
ENST00000466229.5:n.6257A>C
NM_000186.3:c.3159A>C , LRG_47t1:c.3159A>C	NP_000177.2:p.Thr1053=
XR_001737134.2:n.3345A>C
NM_000186.4:c.3159A>C MANE Select	NP_000177.2:p.Thr1053=