Canonical Allele Identifier: CA1217770768

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747215G= , CM000663.2:g.196747215G=	GRCh38
NC_000001.10:g.196716345G= , CM000663.1:g.196716345G=	GRCh37
NC_000001.9:g.194982968G=	NCBI36
NG_007259.1:g.100205G= , LRG_47:g.100205G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4626G=
ENST00000695970.1:c.3424G=	ENSP00000512297.1:p.Val1142=
ENST00000695971.1:c.3577G=	ENSP00000512298.1:p.Val1193=
ENST00000695972.1:c.*675G=	ENSP00000512299.1:n.*675G=
ENST00000695973.1:c.*1962G=	ENSP00000512300.1:n.*1962G=
ENST00000695974.1:c.3421G=	ENSP00000512301.1:p.Val1141=
ENST00000695975.1:c.*1725G=	ENSP00000512302.1:n.*1725G=
ENST00000695976.1:c.3409G=	ENSP00000512303.1:p.Val1137=
ENST00000695981.1:c.3580+18G=	ENSP00000512306.1:n.3580+18G=
ENST00000695984.1:c.1606G=	ENSP00000512309.1:p.Val536=
ENST00000695986.1:c.*3249G=	ENSP00000512311.1:n.*3249G=
ENST00000695990.1:n.632G=
ENST00000696026.1:c.*1880G=	ENSP00000512335.1:n.*1880G=
ENST00000696027.1:c.3592G=	ENSP00000512336.1:p.Val1198=
ENST00000696028.1:c.3526G=	ENSP00000512337.1:p.Val1176=
ENST00000696029.1:c.3592G=	ENSP00000512338.1:p.Val1198=
ENST00000696031.1:c.*3116G=	ENSP00000512340.1:n.*3116G=
ENST00000696032.1:c.3580+18G=	ENSP00000512341.1:n.3580+18G=
ENST00000696033.1:c.1160-32582G=	ENSP00000512342.1:n.1160-32582G=
ENST00000367429.9:c.3598G= MANE Select	ENSP00000356399.4:p.Val1200=
ENST00000367429.8:c.3598G=	ENSP00000356399.4:p.Val1200=
ENST00000466229.5:n.6696G=
NM_000186.3:c.3598G= , LRG_47t1:c.3598G=	NP_000177.2:p.Val1200=
XR_001737134.2:n.3784G=
NM_000186.4:c.3598G= MANE Select	NP_000177.2:p.Val1200=