Canonical Allele Identifier: CA1139774086

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747335C= , CM000663.2:g.196747335C=	GRCh38
NC_000001.10:g.196716465C= , CM000663.1:g.196716465C=	GRCh37
NC_000001.9:g.194983088C=	NCBI36
NG_007259.1:g.100325C= , LRG_47:g.100325C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4746C=
ENST00000695970.1:c.*22C=	ENSP00000512297.1:n.*22C=
ENST00000695971.1:c.*22C=	ENSP00000512298.1:n.*22C=
ENST00000695972.1:c.*795C=	ENSP00000512299.1:n.*795C=
ENST00000695973.1:c.*2082C=	ENSP00000512300.1:n.*2082C=
ENST00000695974.1:c.*22C=	ENSP00000512301.1:n.*22C=
ENST00000695975.1:c.*1845C=	ENSP00000512302.1:n.*1845C=
ENST00000695976.1:c.*22C=	ENSP00000512303.1:n.*22C=
ENST00000695981.1:c.3580+138C=	ENSP00000512306.1:n.3580+138C=
ENST00000695984.1:c.*22C=	ENSP00000512309.1:n.*22C=
ENST00000695986.1:c.*3369C=	ENSP00000512311.1:n.*3369C=
ENST00000695990.1:n.752C=
ENST00000696026.1:c.*2000C=	ENSP00000512335.1:n.*2000C=
ENST00000696027.1:c.*22C=	ENSP00000512336.1:n.*22C=
ENST00000696028.1:c.*22C=	ENSP00000512337.1:n.*22C=
ENST00000696029.1:c.*22C=	ENSP00000512338.1:n.*22C=
ENST00000696031.1:c.*3236C=	ENSP00000512340.1:n.*3236C=
ENST00000696032.1:c.3580+138C=	ENSP00000512341.1:n.3580+138C=
ENST00000696033.1:c.1160-32462C=	ENSP00000512342.1:n.1160-32462C=
ENST00000367429.9:c.*22C= MANE Select	ENSP00000356399.4:n.*22C=
ENST00000367429.8:c.*22C=	ENSP00000356399.4:n.*22C=
ENST00000466229.5:n.6816C=
NM_000186.3:c.*22C= , LRG_47t1:c.*22C=	NP_000177.2:n.*22C=
XR_001737134.2:n.3904C=
NM_000186.4:c.*22C= MANE Select	NP_000177.2:n.*22C=