Canonical Allele Identifier: CA1217768977

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743487G= , CM000663.2:g.196743487G=	GRCh38
NC_000001.10:g.196712617G= , CM000663.1:g.196712617G=	GRCh37
NC_000001.9:g.194979240G=	NCBI36
NG_007259.1:g.96477G= , LRG_47:g.96477G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4197G=
ENST00000695970.1:c.2995G=	ENSP00000512297.1:p.Ala999=
ENST00000695971.1:c.3148G=	ENSP00000512298.1:p.Ala1050=
ENST00000695972.1:c.*246G=	ENSP00000512299.1:n.*246G=
ENST00000695973.1:c.*1533G=	ENSP00000512300.1:n.*1533G=
ENST00000695974.1:c.2992G=	ENSP00000512301.1:p.Ala998=
ENST00000695975.1:c.*1296G=	ENSP00000512302.1:n.*1296G=
ENST00000695976.1:c.2980G=	ENSP00000512303.1:p.Ala994=
ENST00000695981.1:c.3169G=	ENSP00000512306.1:p.Ala1057=
ENST00000695984.1:c.1177G=	ENSP00000512309.1:p.Ala393=
ENST00000695986.1:c.*2820G=	ENSP00000512311.1:n.*2820G=
ENST00000696026.1:c.*1451G=	ENSP00000512335.1:n.*1451G=
ENST00000696027.1:c.3163G=	ENSP00000512336.1:p.Ala1055=
ENST00000696028.1:c.3097G=	ENSP00000512337.1:p.Ala1033=
ENST00000696029.1:c.3163G=	ENSP00000512338.1:p.Ala1055=
ENST00000696031.1:c.*2687G=	ENSP00000512340.1:n.*2687G=
ENST00000696032.1:c.3169G=	ENSP00000512341.1:p.Ala1057=
ENST00000696033.1:c.1160-36310G=	ENSP00000512342.1:n.1160-36310G=
ENST00000367429.9:c.3169G= MANE Select	ENSP00000356399.4:p.Ala1057=
ENST00000367429.8:c.3169G=	ENSP00000356399.4:p.Ala1057=
ENST00000466229.5:n.6267G=
NM_000186.3:c.3169G= , LRG_47t1:c.3169G=	NP_000177.2:p.Ala1057=
XR_001737134.2:n.3355G=
NM_000186.4:c.3169G= MANE Select	NP_000177.2:p.Ala1057=