Canonical Allele Identifier: CA1217769014

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743555C= , CM000663.2:g.196743555C=	GRCh38
NC_000001.10:g.196712685C= , CM000663.1:g.196712685C=	GRCh37
NC_000001.9:g.194979308C=	NCBI36
NG_007259.1:g.96545C= , LRG_47:g.96545C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4265C=
ENST00000695970.1:c.3063C=	ENSP00000512297.1:p.Ser1021=
ENST00000695971.1:c.3216C=	ENSP00000512298.1:p.Ser1072=
ENST00000695972.1:c.*314C=	ENSP00000512299.1:n.*314C=
ENST00000695973.1:c.*1601C=	ENSP00000512300.1:n.*1601C=
ENST00000695974.1:c.3060C=	ENSP00000512301.1:p.Ser1020=
ENST00000695975.1:c.*1364C=	ENSP00000512302.1:n.*1364C=
ENST00000695976.1:c.3048C=	ENSP00000512303.1:p.Ser1016=
ENST00000695981.1:c.3237C=	ENSP00000512306.1:p.Ser1079=
ENST00000695984.1:c.1245C=	ENSP00000512309.1:p.Ser415=
ENST00000695986.1:c.*2888C=	ENSP00000512311.1:n.*2888C=
ENST00000696026.1:c.*1519C=	ENSP00000512335.1:n.*1519C=
ENST00000696027.1:c.3231C=	ENSP00000512336.1:p.Ser1077=
ENST00000696028.1:c.3165C=	ENSP00000512337.1:p.Ser1055=
ENST00000696029.1:c.3231C=	ENSP00000512338.1:p.Ser1077=
ENST00000696031.1:c.*2755C=	ENSP00000512340.1:n.*2755C=
ENST00000696032.1:c.3237C=	ENSP00000512341.1:p.Ser1079=
ENST00000696033.1:c.1160-36242C=	ENSP00000512342.1:n.1160-36242C=
ENST00000367429.9:c.3237C= MANE Select	ENSP00000356399.4:p.Ser1079=
ENST00000367429.8:c.3237C=	ENSP00000356399.4:p.Ser1079=
ENST00000466229.5:n.6335C=
NM_000186.3:c.3237C= , LRG_47t1:c.3237C=	NP_000177.2:p.Ser1079=
XR_001737134.2:n.3423C=
NM_000186.4:c.3237C= MANE Select	NP_000177.2:p.Ser1079=