Canonical Allele Identifier: CA1217770829

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747387T= , CM000663.2:g.196747387T=	GRCh38
NC_000001.10:g.196716517T= , CM000663.1:g.196716517T=	GRCh37
NC_000001.9:g.194983140T=	NCBI36
NG_007259.1:g.100377T= , LRG_47:g.100377T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4798T=
ENST00000695970.1:c.*74T=	ENSP00000512297.1:n.*74T=
ENST00000695971.1:c.*74T=	ENSP00000512298.1:n.*74T=
ENST00000695972.1:c.*847T=	ENSP00000512299.1:n.*847T=
ENST00000695973.1:c.*2134T=	ENSP00000512300.1:n.*2134T=
ENST00000695974.1:c.*74T=	ENSP00000512301.1:n.*74T=
ENST00000695975.1:c.*1897T=	ENSP00000512302.1:n.*1897T=
ENST00000695976.1:c.*74T=	ENSP00000512303.1:n.*74T=
ENST00000695981.1:c.3580+190T=	ENSP00000512306.1:n.3580+190T=
ENST00000695984.1:c.*74T=	ENSP00000512309.1:n.*74T=
ENST00000695986.1:c.*3421T=	ENSP00000512311.1:n.*3421T=
ENST00000695990.1:n.804T=
ENST00000696026.1:c.*2052T=	ENSP00000512335.1:n.*2052T=
ENST00000696027.1:c.*74T=	ENSP00000512336.1:n.*74T=
ENST00000696028.1:c.*74T=	ENSP00000512337.1:n.*74T=
ENST00000696029.1:c.*74T=	ENSP00000512338.1:n.*74T=
ENST00000696031.1:c.*3288T=	ENSP00000512340.1:n.*3288T=
ENST00000696032.1:c.3580+190T=	ENSP00000512341.1:n.3580+190T=
ENST00000696033.1:c.1160-32410T=	ENSP00000512342.1:n.1160-32410T=
ENST00000367429.9:c.*74T= MANE Select	ENSP00000356399.4:n.*74T=
ENST00000367429.8:c.*74T=	ENSP00000356399.4:n.*74T=
ENST00000466229.5:n.6868T=
NM_000186.3:c.*74T= , LRG_47t1:c.*74T=	NP_000177.2:n.*74T=
XR_001737134.2:n.3956T=
NM_000186.4:c.*74T= MANE Select	NP_000177.2:n.*74T=