Canonical Allele Identifier: CA422663534

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716321A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747191A>C , CM000663.2:g.196747191A>C	GRCh38
NC_000001.10:g.196716321A>C , CM000663.1:g.196716321A>C	GRCh37
NC_000001.9:g.194982944A>C	NCBI36
NG_007259.1:g.100181A>C , LRG_47:g.100181A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4602A>C
ENST00000695970.1:c.3400A>C	ENSP00000512297.1:p.Arg1134=
ENST00000695971.1:c.3553A>C	ENSP00000512298.1:p.Arg1185=
ENST00000695972.1:c.*651A>C	ENSP00000512299.1:n.*651A>C
ENST00000695973.1:c.*1938A>C	ENSP00000512300.1:n.*1938A>C
ENST00000695974.1:c.3397A>C	ENSP00000512301.1:p.Arg1133=
ENST00000695975.1:c.*1701A>C	ENSP00000512302.1:n.*1701A>C
ENST00000695976.1:c.3385A>C	ENSP00000512303.1:p.Arg1129=
ENST00000695981.1:c.3574A>C	ENSP00000512306.1:p.Arg1192=
ENST00000695984.1:c.1582A>C	ENSP00000512309.1:p.Arg528=
ENST00000695986.1:c.*3225A>C	ENSP00000512311.1:n.*3225A>C
ENST00000695990.1:n.608A>C
ENST00000696026.1:c.*1856A>C	ENSP00000512335.1:n.*1856A>C
ENST00000696027.1:c.3568A>C	ENSP00000512336.1:p.Arg1190=
ENST00000696028.1:c.3502A>C	ENSP00000512337.1:p.Arg1168=
ENST00000696029.1:c.3568A>C	ENSP00000512338.1:p.Arg1190=
ENST00000696031.1:c.*3092A>C	ENSP00000512340.1:n.*3092A>C
ENST00000696032.1:c.3574A>C	ENSP00000512341.1:p.Arg1192=
ENST00000696033.1:c.1160-32606A>C	ENSP00000512342.1:n.1160-32606A>C
ENST00000367429.9:c.3574A>C MANE Select	ENSP00000356399.4:p.Arg1192=
ENST00000367429.8:c.3574A>C	ENSP00000356399.4:p.Arg1192=
ENST00000466229.5:n.6672A>C
NM_000186.3:c.3574A>C , LRG_47t1:c.3574A>C	NP_000177.2:p.Arg1192=
XR_001737134.2:n.3760A>C
NM_000186.4:c.3574A>C MANE Select	NP_000177.2:p.Arg1192=