Canonical Allele Identifier: CA422663521

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716308G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747178G>A , CM000663.2:g.196747178G>A	GRCh38
NC_000001.10:g.196716308G>A , CM000663.1:g.196716308G>A	GRCh37
NC_000001.9:g.194982931G>A	NCBI36
NG_007259.1:g.100168G>A , LRG_47:g.100168G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4589G>A
ENST00000695970.1:c.3387G>A	ENSP00000512297.1:p.Gln1129=
ENST00000695971.1:c.3540G>A	ENSP00000512298.1:p.Gln1180=
ENST00000695972.1:c.*638G>A	ENSP00000512299.1:n.*638G>A
ENST00000695973.1:c.*1925G>A	ENSP00000512300.1:n.*1925G>A
ENST00000695974.1:c.3384G>A	ENSP00000512301.1:p.Gln1128=
ENST00000695975.1:c.*1688G>A	ENSP00000512302.1:n.*1688G>A
ENST00000695976.1:c.3372G>A	ENSP00000512303.1:p.Gln1124=
ENST00000695981.1:c.3561G>A	ENSP00000512306.1:p.Gln1187=
ENST00000695984.1:c.1569G>A	ENSP00000512309.1:p.Gln523=
ENST00000695986.1:c.*3212G>A	ENSP00000512311.1:n.*3212G>A
ENST00000695990.1:n.595G>A
ENST00000696026.1:c.*1843G>A	ENSP00000512335.1:n.*1843G>A
ENST00000696027.1:c.3555G>A	ENSP00000512336.1:p.Gln1185=
ENST00000696028.1:c.3489G>A	ENSP00000512337.1:p.Gln1163=
ENST00000696029.1:c.3555G>A	ENSP00000512338.1:p.Gln1185=
ENST00000696031.1:c.*3079G>A	ENSP00000512340.1:n.*3079G>A
ENST00000696032.1:c.3561G>A	ENSP00000512341.1:p.Gln1187=
ENST00000696033.1:c.1160-32619G>A	ENSP00000512342.1:n.1160-32619G>A
ENST00000367429.9:c.3561G>A MANE Select	ENSP00000356399.4:p.Gln1187=
ENST00000367429.8:c.3561G>A	ENSP00000356399.4:p.Gln1187=
ENST00000466229.5:n.6659G>A
NM_000186.3:c.3561G>A , LRG_47t1:c.3561G>A	NP_000177.2:p.Gln1187=
XR_001737134.2:n.3747G>A
NM_000186.4:c.3561G>A MANE Select	NP_000177.2:p.Gln1187=