Canonical Allele Identifier: CA1141581321

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743552G= , CM000663.2:g.196743552G=	GRCh38
NC_000001.10:g.196712682G= , CM000663.1:g.196712682G=	GRCh37
NC_000001.9:g.194979305G=	NCBI36
NG_007259.1:g.96542G= , LRG_47:g.96542G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4262G=
ENST00000695970.1:c.3060G=	ENSP00000512297.1:p.Arg1020=
ENST00000695971.1:c.3213G=	ENSP00000512298.1:p.Arg1071=
ENST00000695972.1:c.*311G=	ENSP00000512299.1:n.*311G=
ENST00000695973.1:c.*1598G=	ENSP00000512300.1:n.*1598G=
ENST00000695974.1:c.3057G=	ENSP00000512301.1:p.Arg1019=
ENST00000695975.1:c.*1361G=	ENSP00000512302.1:n.*1361G=
ENST00000695976.1:c.3045G=	ENSP00000512303.1:p.Arg1015=
ENST00000695981.1:c.3234G=	ENSP00000512306.1:p.Arg1078=
ENST00000695984.1:c.1242G=	ENSP00000512309.1:p.Arg414=
ENST00000695986.1:c.*2885G=	ENSP00000512311.1:n.*2885G=
ENST00000696026.1:c.*1516G=	ENSP00000512335.1:n.*1516G=
ENST00000696027.1:c.3228G=	ENSP00000512336.1:p.Arg1076=
ENST00000696028.1:c.3162G=	ENSP00000512337.1:p.Arg1054=
ENST00000696029.1:c.3228G=	ENSP00000512338.1:p.Arg1076=
ENST00000696031.1:c.*2752G=	ENSP00000512340.1:n.*2752G=
ENST00000696032.1:c.3234G=	ENSP00000512341.1:p.Arg1078=
ENST00000696033.1:c.1160-36245G=	ENSP00000512342.1:n.1160-36245G=
ENST00000367429.9:c.3234G= MANE Select	ENSP00000356399.4:p.Arg1078=
ENST00000367429.8:c.3234G=	ENSP00000356399.4:p.Arg1078=
ENST00000466229.5:n.6332G=
NM_000186.3:c.3234G= , LRG_47t1:c.3234G=	NP_000177.2:p.Arg1078=
XR_001737134.2:n.3420G=
NM_000186.4:c.3234G= MANE Select	NP_000177.2:p.Arg1078=