Canonical Allele Identifier: CA1144245293

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747458C= , CM000663.2:g.196747458C=	GRCh38
NC_000001.10:g.196716588C= , CM000663.1:g.196716588C=	GRCh37
NC_000001.9:g.194983211C=	NCBI36
NG_007259.1:g.100448C= , LRG_47:g.100448C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4869C=
ENST00000695970.1:c.*145C=	ENSP00000512297.1:n.*145C=
ENST00000695971.1:c.*145C=	ENSP00000512298.1:n.*145C=
ENST00000695972.1:c.*918C=	ENSP00000512299.1:n.*918C=
ENST00000695973.1:c.*2205C=	ENSP00000512300.1:n.*2205C=
ENST00000695974.1:c.*145C=	ENSP00000512301.1:n.*145C=
ENST00000695975.1:c.*1968C=	ENSP00000512302.1:n.*1968C=
ENST00000695976.1:c.*145C=	ENSP00000512303.1:n.*145C=
ENST00000695981.1:c.3580+261C=	ENSP00000512306.1:n.3580+261C=
ENST00000695984.1:c.*145C=	ENSP00000512309.1:n.*145C=
ENST00000695986.1:c.*3492C=	ENSP00000512311.1:n.*3492C=
ENST00000695990.1:n.875C=
ENST00000696026.1:c.*2123C=	ENSP00000512335.1:n.*2123C=
ENST00000696027.1:c.*145C=	ENSP00000512336.1:n.*145C=
ENST00000696028.1:c.*145C=	ENSP00000512337.1:n.*145C=
ENST00000696029.1:c.*145C=	ENSP00000512338.1:n.*145C=
ENST00000696031.1:c.*3359C=	ENSP00000512340.1:n.*3359C=
ENST00000696032.1:c.3580+261C=	ENSP00000512341.1:n.3580+261C=
ENST00000696033.1:c.1160-32339C=	ENSP00000512342.1:n.1160-32339C=
ENST00000367429.9:c.*145C= MANE Select	ENSP00000356399.4:n.*145C=
ENST00000367429.8:c.*145C=	ENSP00000356399.4:n.*145C=
ENST00000466229.5:n.6939C=
NM_000186.3:c.*145C= , LRG_47t1:c.*145C=	NP_000177.2:n.*145C=
XR_001737134.2:n.4027C=
NM_000186.4:c.*145C= MANE Select	NP_000177.2:n.*145C=