Canonical Allele Identifier: CA343987192

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716271A>G (hg19) ; chr1:g.196747141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747141A>G , CM000663.2:g.196747141A>G	GRCh38
NC_000001.10:g.196716271A>G , CM000663.1:g.196716271A>G	GRCh37
NC_000001.9:g.194982894A>G	NCBI36
NG_007259.1:g.100131A>G , LRG_47:g.100131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4552A>G
ENST00000695970.1:c.3350A>G	ENSP00000512297.1:p.Glu1117Gly
ENST00000695971.1:c.3503A>G	ENSP00000512298.1:p.Glu1168Gly
ENST00000695972.1:c.*601A>G	ENSP00000512299.1:n.*601A>G
ENST00000695973.1:c.*1888A>G	ENSP00000512300.1:n.*1888A>G
ENST00000695974.1:c.3347A>G	ENSP00000512301.1:p.Glu1116Gly
ENST00000695975.1:c.*1651A>G	ENSP00000512302.1:n.*1651A>G
ENST00000695976.1:c.3335A>G	ENSP00000512303.1:p.Glu1112Gly
ENST00000695981.1:c.3524A>G	ENSP00000512306.1:p.Glu1175Gly
ENST00000695984.1:c.1532A>G	ENSP00000512309.1:p.Glu511Gly
ENST00000695986.1:c.*3175A>G	ENSP00000512311.1:n.*3175A>G
ENST00000695990.1:n.558A>G
ENST00000696026.1:c.*1806A>G	ENSP00000512335.1:n.*1806A>G
ENST00000696027.1:c.3518A>G	ENSP00000512336.1:p.Glu1173Gly
ENST00000696028.1:c.3452A>G	ENSP00000512337.1:p.Glu1151Gly
ENST00000696029.1:c.3518A>G	ENSP00000512338.1:p.Glu1173Gly
ENST00000696031.1:c.*3042A>G	ENSP00000512340.1:n.*3042A>G
ENST00000696032.1:c.3524A>G	ENSP00000512341.1:p.Glu1175Gly
ENST00000696033.1:c.1160-32656A>G	ENSP00000512342.1:n.1160-32656A>G
ENST00000367429.9:c.3524A>G MANE Select	ENSP00000356399.4:p.Glu1175Gly
ENST00000367429.8:c.3524A>G	ENSP00000356399.4:p.Glu1175Gly
ENST00000466229.5:n.6622A>G
NM_000186.3:c.3524A>G , LRG_47t1:c.3524A>G	NP_000177.2:p.Glu1175Gly
XR_001737134.2:n.3710A>G
NM_000186.4:c.3524A>G MANE Select	NP_000177.2:p.Glu1175Gly