Canonical Allele Identifier: CA1217770866

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747462G= , CM000663.2:g.196747462G=	GRCh38
NC_000001.10:g.196716592G= , CM000663.1:g.196716592G=	GRCh37
NC_000001.9:g.194983215G=	NCBI36
NG_007259.1:g.100452G= , LRG_47:g.100452G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4873G=
ENST00000695970.1:c.*149G=	ENSP00000512297.1:n.*149G=
ENST00000695971.1:c.*149G=	ENSP00000512298.1:n.*149G=
ENST00000695972.1:c.*922G=	ENSP00000512299.1:n.*922G=
ENST00000695973.1:c.*2209G=	ENSP00000512300.1:n.*2209G=
ENST00000695974.1:c.*149G=	ENSP00000512301.1:n.*149G=
ENST00000695975.1:c.*1972G=	ENSP00000512302.1:n.*1972G=
ENST00000695976.1:c.*149G=	ENSP00000512303.1:n.*149G=
ENST00000695981.1:c.3580+265G=	ENSP00000512306.1:n.3580+265G=
ENST00000695984.1:c.*149G=	ENSP00000512309.1:n.*149G=
ENST00000695986.1:c.*3496G=	ENSP00000512311.1:n.*3496G=
ENST00000695990.1:n.879G=
ENST00000696026.1:c.*2127G=	ENSP00000512335.1:n.*2127G=
ENST00000696027.1:c.*149G=	ENSP00000512336.1:n.*149G=
ENST00000696028.1:c.*149G=	ENSP00000512337.1:n.*149G=
ENST00000696029.1:c.*149G=	ENSP00000512338.1:n.*149G=
ENST00000696031.1:c.*3363G=	ENSP00000512340.1:n.*3363G=
ENST00000696032.1:c.3580+265G=	ENSP00000512341.1:n.3580+265G=
ENST00000696033.1:c.1160-32335G=	ENSP00000512342.1:n.1160-32335G=
ENST00000367429.9:c.*149G= MANE Select	ENSP00000356399.4:n.*149G=
ENST00000367429.8:c.*149G=	ENSP00000356399.4:n.*149G=
ENST00000466229.5:n.6943G=
NM_000186.3:c.*149G= , LRG_47t1:c.*149G=	NP_000177.2:n.*149G=
XR_001737134.2:n.4031G=
NM_000186.4:c.*149G= MANE Select	NP_000177.2:n.*149G=