Canonical Allele Identifier: CA1217769045

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743625A= , CM000663.2:g.196743625A=	GRCh38
NC_000001.10:g.196712755A= , CM000663.1:g.196712755A=	GRCh37
NC_000001.9:g.194979378A=	NCBI36
NG_007259.1:g.96615A= , LRG_47:g.96615A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4335A=
ENST00000695970.1:c.3133A=	ENSP00000512297.1:p.Lys1045=
ENST00000695971.1:c.3286A=	ENSP00000512298.1:p.Lys1096=
ENST00000695972.1:c.*384A=	ENSP00000512299.1:n.*384A=
ENST00000695973.1:c.*1671A=	ENSP00000512300.1:n.*1671A=
ENST00000695974.1:c.3130A=	ENSP00000512301.1:p.Lys1044=
ENST00000695975.1:c.*1434A=	ENSP00000512302.1:n.*1434A=
ENST00000695976.1:c.3118A=	ENSP00000512303.1:p.Lys1040=
ENST00000695981.1:c.3307A=	ENSP00000512306.1:p.Lys1103=
ENST00000695984.1:c.1315A=	ENSP00000512309.1:p.Lys439=
ENST00000695986.1:c.*2958A=	ENSP00000512311.1:n.*2958A=
ENST00000696026.1:c.*1589A=	ENSP00000512335.1:n.*1589A=
ENST00000696027.1:c.3301A=	ENSP00000512336.1:p.Lys1101=
ENST00000696028.1:c.3235A=	ENSP00000512337.1:p.Lys1079=
ENST00000696029.1:c.3301A=	ENSP00000512338.1:p.Lys1101=
ENST00000696031.1:c.*2825A=	ENSP00000512340.1:n.*2825A=
ENST00000696032.1:c.3307A=	ENSP00000512341.1:p.Lys1103=
ENST00000696033.1:c.1160-36172A=	ENSP00000512342.1:n.1160-36172A=
ENST00000367429.9:c.3307A= MANE Select	ENSP00000356399.4:p.Lys1103=
ENST00000367429.8:c.3307A=	ENSP00000356399.4:p.Lys1103=
ENST00000466229.5:n.6405A=
NM_000186.3:c.3307A= , LRG_47t1:c.3307A=	NP_000177.2:p.Lys1103=
XR_001737134.2:n.3493A=
NM_000186.4:c.3307A= MANE Select	NP_000177.2:p.Lys1103=