Canonical Allele Identifier: CA422663451

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716263A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747133A>G , CM000663.2:g.196747133A>G	GRCh38
NC_000001.10:g.196716263A>G , CM000663.1:g.196716263A>G	GRCh37
NC_000001.9:g.194982886A>G	NCBI36
NG_007259.1:g.100123A>G , LRG_47:g.100123A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4544A>G
ENST00000695970.1:c.3342A>G	ENSP00000512297.1:p.Glu1114=
ENST00000695971.1:c.3495A>G	ENSP00000512298.1:p.Glu1165=
ENST00000695972.1:c.*593A>G	ENSP00000512299.1:n.*593A>G
ENST00000695973.1:c.*1880A>G	ENSP00000512300.1:n.*1880A>G
ENST00000695974.1:c.3339A>G	ENSP00000512301.1:p.Glu1113=
ENST00000695975.1:c.*1643A>G	ENSP00000512302.1:n.*1643A>G
ENST00000695976.1:c.3327A>G	ENSP00000512303.1:p.Glu1109=
ENST00000695981.1:c.3516A>G	ENSP00000512306.1:p.Glu1172=
ENST00000695984.1:c.1524A>G	ENSP00000512309.1:p.Glu508=
ENST00000695986.1:c.*3167A>G	ENSP00000512311.1:n.*3167A>G
ENST00000695990.1:n.550A>G
ENST00000696026.1:c.*1798A>G	ENSP00000512335.1:n.*1798A>G
ENST00000696027.1:c.3510A>G	ENSP00000512336.1:p.Glu1170=
ENST00000696028.1:c.3444A>G	ENSP00000512337.1:p.Glu1148=
ENST00000696029.1:c.3510A>G	ENSP00000512338.1:p.Glu1170=
ENST00000696031.1:c.*3034A>G	ENSP00000512340.1:n.*3034A>G
ENST00000696032.1:c.3516A>G	ENSP00000512341.1:p.Glu1172=
ENST00000696033.1:c.1160-32664A>G	ENSP00000512342.1:n.1160-32664A>G
ENST00000367429.9:c.3516A>G MANE Select	ENSP00000356399.4:p.Glu1172=
ENST00000367429.8:c.3516A>G	ENSP00000356399.4:p.Glu1172=
ENST00000466229.5:n.6614A>G
NM_000186.3:c.3516A>G , LRG_47t1:c.3516A>G	NP_000177.2:p.Glu1172=
XR_001737134.2:n.3702A>G
NM_000186.4:c.3516A>G MANE Select	NP_000177.2:p.Glu1172=