Canonical Allele Identifier: CA1217770789

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747264C= , CM000663.2:g.196747264C=	GRCh38
NC_000001.10:g.196716394C= , CM000663.1:g.196716394C=	GRCh37
NC_000001.9:g.194983017C=	NCBI36
NG_007259.1:g.100254C= , LRG_47:g.100254C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4675C=
ENST00000695970.1:c.3473C=	ENSP00000512297.1:p.Thr1158=
ENST00000695971.1:c.3626C=	ENSP00000512298.1:p.Thr1209=
ENST00000695972.1:c.*724C=	ENSP00000512299.1:n.*724C=
ENST00000695973.1:c.*2011C=	ENSP00000512300.1:n.*2011C=
ENST00000695974.1:c.3470C=	ENSP00000512301.1:p.Thr1157=
ENST00000695975.1:c.*1774C=	ENSP00000512302.1:n.*1774C=
ENST00000695976.1:c.3458C=	ENSP00000512303.1:p.Thr1153=
ENST00000695981.1:c.3580+67C=	ENSP00000512306.1:n.3580+67C=
ENST00000695984.1:c.1655C=	ENSP00000512309.1:p.Thr552=
ENST00000695986.1:c.*3298C=	ENSP00000512311.1:n.*3298C=
ENST00000695990.1:n.681C=
ENST00000696026.1:c.*1929C=	ENSP00000512335.1:n.*1929C=
ENST00000696027.1:c.3641C=	ENSP00000512336.1:p.Thr1214=
ENST00000696028.1:c.3575C=	ENSP00000512337.1:p.Thr1192=
ENST00000696029.1:c.3641C=	ENSP00000512338.1:p.Thr1214=
ENST00000696031.1:c.*3165C=	ENSP00000512340.1:n.*3165C=
ENST00000696032.1:c.3580+67C=	ENSP00000512341.1:n.3580+67C=
ENST00000696033.1:c.1160-32533C=	ENSP00000512342.1:n.1160-32533C=
ENST00000367429.9:c.3647C= MANE Select	ENSP00000356399.4:p.Thr1216=
ENST00000367429.8:c.3647C=	ENSP00000356399.4:p.Thr1216=
ENST00000466229.5:n.6745C=
NM_000186.3:c.3647C= , LRG_47t1:c.3647C=	NP_000177.2:p.Thr1216=
XR_001737134.2:n.3833C=
NM_000186.4:c.3647C= MANE Select	NP_000177.2:p.Thr1216=