Canonical Allele Identifier: CA343987187

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4552A>T
ENST00000695970.1:c.3350A>T	ENSP00000512297.1:p.Glu1117Val
ENST00000695971.1:c.3503A>T	ENSP00000512298.1:p.Glu1168Val
ENST00000695972.1:c.*601A>T	ENSP00000512299.1:n.*601A>T
ENST00000695973.1:c.*1888A>T	ENSP00000512300.1:n.*1888A>T
ENST00000695974.1:c.3347A>T	ENSP00000512301.1:p.Glu1116Val
ENST00000695975.1:c.*1651A>T	ENSP00000512302.1:n.*1651A>T
ENST00000695976.1:c.3335A>T	ENSP00000512303.1:p.Glu1112Val
ENST00000695981.1:c.3524A>T	ENSP00000512306.1:p.Glu1175Val
ENST00000695984.1:c.1532A>T	ENSP00000512309.1:p.Glu511Val
ENST00000695986.1:c.*3175A>T	ENSP00000512311.1:n.*3175A>T
ENST00000695990.1:n.558A>T
ENST00000696026.1:c.*1806A>T	ENSP00000512335.1:n.*1806A>T
ENST00000696027.1:c.3518A>T	ENSP00000512336.1:p.Glu1173Val
ENST00000696028.1:c.3452A>T	ENSP00000512337.1:p.Glu1151Val
ENST00000696029.1:c.3518A>T	ENSP00000512338.1:p.Glu1173Val
ENST00000696031.1:c.*3042A>T	ENSP00000512340.1:n.*3042A>T
ENST00000696032.1:c.3524A>T	ENSP00000512341.1:p.Glu1175Val
ENST00000696033.1:c.1160-32656A>T	ENSP00000512342.1:n.1160-32656A>T
ENST00000367429.9:c.3524A>T MANE Select	ENSP00000356399.4:p.Glu1175Val
ENST00000367429.8:c.3524A>T	ENSP00000356399.4:p.Glu1175Val
ENST00000466229.5:n.6622A>T
NM_000186.3:c.3524A>T , LRG_47t1:c.3524A>T	NP_000177.2:p.Glu1175Val
XR_001737134.2:n.3710A>T
NM_000186.4:c.3524A>T MANE Select	NP_000177.2:p.Glu1175Val