Canonical Allele Identifier: CA422663624

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716386A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747256A>C , CM000663.2:g.196747256A>C	GRCh38
NC_000001.10:g.196716386A>C , CM000663.1:g.196716386A>C	GRCh37
NC_000001.9:g.194983009A>C	NCBI36
NG_007259.1:g.100246A>C , LRG_47:g.100246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4667A>C
ENST00000695970.1:c.3465A>C	ENSP00000512297.1:p.Thr1155=
ENST00000695971.1:c.3618A>C	ENSP00000512298.1:p.Thr1206=
ENST00000695972.1:c.*716A>C	ENSP00000512299.1:n.*716A>C
ENST00000695973.1:c.*2003A>C	ENSP00000512300.1:n.*2003A>C
ENST00000695974.1:c.3462A>C	ENSP00000512301.1:p.Thr1154=
ENST00000695975.1:c.*1766A>C	ENSP00000512302.1:n.*1766A>C
ENST00000695976.1:c.3450A>C	ENSP00000512303.1:p.Thr1150=
ENST00000695981.1:c.3580+59A>C	ENSP00000512306.1:n.3580+59A>C
ENST00000695984.1:c.1647A>C	ENSP00000512309.1:p.Thr549=
ENST00000695986.1:c.*3290A>C	ENSP00000512311.1:n.*3290A>C
ENST00000695990.1:n.673A>C
ENST00000696026.1:c.*1921A>C	ENSP00000512335.1:n.*1921A>C
ENST00000696027.1:c.3633A>C	ENSP00000512336.1:p.Thr1211=
ENST00000696028.1:c.3567A>C	ENSP00000512337.1:p.Thr1189=
ENST00000696029.1:c.3633A>C	ENSP00000512338.1:p.Thr1211=
ENST00000696031.1:c.*3157A>C	ENSP00000512340.1:n.*3157A>C
ENST00000696032.1:c.3580+59A>C	ENSP00000512341.1:n.3580+59A>C
ENST00000696033.1:c.1160-32541A>C	ENSP00000512342.1:n.1160-32541A>C
ENST00000367429.9:c.3639A>C MANE Select	ENSP00000356399.4:p.Thr1213=
ENST00000367429.8:c.3639A>C	ENSP00000356399.4:p.Thr1213=
ENST00000466229.5:n.6737A>C
NM_000186.3:c.3639A>C , LRG_47t1:c.3639A>C	NP_000177.2:p.Thr1213=
XR_001737134.2:n.3825A>C
NM_000186.4:c.3639A>C MANE Select	NP_000177.2:p.Thr1213=