Canonical Allele Identifier: CA1217769000

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743530A= , CM000663.2:g.196743530A=	GRCh38
NC_000001.10:g.196712660A= , CM000663.1:g.196712660A=	GRCh37
NC_000001.9:g.194979283A=	NCBI36
NG_007259.1:g.96520A= , LRG_47:g.96520A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4240A=
ENST00000695970.1:c.3038A=	ENSP00000512297.1:p.Glu1013=
ENST00000695971.1:c.3191A=	ENSP00000512298.1:p.Glu1064=
ENST00000695972.1:c.*289A=	ENSP00000512299.1:n.*289A=
ENST00000695973.1:c.*1576A=	ENSP00000512300.1:n.*1576A=
ENST00000695974.1:c.3035A=	ENSP00000512301.1:p.Glu1012=
ENST00000695975.1:c.*1339A=	ENSP00000512302.1:n.*1339A=
ENST00000695976.1:c.3023A=	ENSP00000512303.1:p.Glu1008=
ENST00000695981.1:c.3212A=	ENSP00000512306.1:p.Glu1071=
ENST00000695984.1:c.1220A=	ENSP00000512309.1:p.Glu407=
ENST00000695986.1:c.*2863A=	ENSP00000512311.1:n.*2863A=
ENST00000696026.1:c.*1494A=	ENSP00000512335.1:n.*1494A=
ENST00000696027.1:c.3206A=	ENSP00000512336.1:p.Glu1069=
ENST00000696028.1:c.3140A=	ENSP00000512337.1:p.Glu1047=
ENST00000696029.1:c.3206A=	ENSP00000512338.1:p.Glu1069=
ENST00000696031.1:c.*2730A=	ENSP00000512340.1:n.*2730A=
ENST00000696032.1:c.3212A=	ENSP00000512341.1:p.Glu1071=
ENST00000696033.1:c.1160-36267A=	ENSP00000512342.1:n.1160-36267A=
ENST00000367429.9:c.3212A= MANE Select	ENSP00000356399.4:p.Glu1071=
ENST00000367429.8:c.3212A=	ENSP00000356399.4:p.Glu1071=
ENST00000466229.5:n.6310A=
NM_000186.3:c.3212A= , LRG_47t1:c.3212A=	NP_000177.2:p.Glu1071=
XR_001737134.2:n.3398A=
NM_000186.4:c.3212A= MANE Select	NP_000177.2:p.Glu1071=