Canonical Allele Identifier: CA1139797279

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747189C= , CM000663.2:g.196747189C=	GRCh38
NC_000001.10:g.196716319C= , CM000663.1:g.196716319C=	GRCh37
NC_000001.9:g.194982942C=	NCBI36
NG_007259.1:g.100179C= , LRG_47:g.100179C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4600C=
ENST00000695970.1:c.3398C=	ENSP00000512297.1:p.Ser1133=
ENST00000695971.1:c.3551C=	ENSP00000512298.1:p.Ser1184=
ENST00000695972.1:c.*649C=	ENSP00000512299.1:n.*649C=
ENST00000695973.1:c.*1936C=	ENSP00000512300.1:n.*1936C=
ENST00000695974.1:c.3395C=	ENSP00000512301.1:p.Ser1132=
ENST00000695975.1:c.*1699C=	ENSP00000512302.1:n.*1699C=
ENST00000695976.1:c.3383C=	ENSP00000512303.1:p.Ser1128=
ENST00000695981.1:c.3572C=	ENSP00000512306.1:p.Ser1191=
ENST00000695984.1:c.1580C=	ENSP00000512309.1:p.Ser527=
ENST00000695986.1:c.*3223C=	ENSP00000512311.1:n.*3223C=
ENST00000695990.1:n.606C=
ENST00000696026.1:c.*1854C=	ENSP00000512335.1:n.*1854C=
ENST00000696027.1:c.3566C=	ENSP00000512336.1:p.Ser1189=
ENST00000696028.1:c.3500C=	ENSP00000512337.1:p.Ser1167=
ENST00000696029.1:c.3566C=	ENSP00000512338.1:p.Ser1189=
ENST00000696031.1:c.*3090C=	ENSP00000512340.1:n.*3090C=
ENST00000696032.1:c.3572C=	ENSP00000512341.1:p.Ser1191=
ENST00000696033.1:c.1160-32608C=	ENSP00000512342.1:n.1160-32608C=
ENST00000367429.9:c.3572C= MANE Select	ENSP00000356399.4:p.Ser1191=
ENST00000367429.8:c.3572C=	ENSP00000356399.4:p.Ser1191=
ENST00000466229.5:n.6670C=
NM_000186.3:c.3572C= , LRG_47t1:c.3572C=	NP_000177.2:p.Ser1191=
XR_001737134.2:n.3758C=
NM_000186.4:c.3572C= MANE Select	NP_000177.2:p.Ser1191=