Canonical Allele Identifier: CA1217770767

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747206G= , CM000663.2:g.196747206G=	GRCh38
NC_000001.10:g.196716336G= , CM000663.1:g.196716336G=	GRCh37
NC_000001.9:g.194982959G=	NCBI36
NG_007259.1:g.100196G= , LRG_47:g.100196G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4617G=
ENST00000695970.1:c.3415G=	ENSP00000512297.1:p.Val1139=
ENST00000695971.1:c.3568G=	ENSP00000512298.1:p.Val1190=
ENST00000695972.1:c.*666G=	ENSP00000512299.1:n.*666G=
ENST00000695973.1:c.*1953G=	ENSP00000512300.1:n.*1953G=
ENST00000695974.1:c.3412G=	ENSP00000512301.1:p.Val1138=
ENST00000695975.1:c.*1716G=	ENSP00000512302.1:n.*1716G=
ENST00000695976.1:c.3400G=	ENSP00000512303.1:p.Val1134=
ENST00000695981.1:c.3580+9G=	ENSP00000512306.1:n.3580+9G=
ENST00000695984.1:c.1597G=	ENSP00000512309.1:p.Val533=
ENST00000695986.1:c.*3240G=	ENSP00000512311.1:n.*3240G=
ENST00000695990.1:n.623G=
ENST00000696026.1:c.*1871G=	ENSP00000512335.1:n.*1871G=
ENST00000696027.1:c.3583G=	ENSP00000512336.1:p.Val1195=
ENST00000696028.1:c.3517G=	ENSP00000512337.1:p.Val1173=
ENST00000696029.1:c.3583G=	ENSP00000512338.1:p.Val1195=
ENST00000696031.1:c.*3107G=	ENSP00000512340.1:n.*3107G=
ENST00000696032.1:c.3580+9G=	ENSP00000512341.1:n.3580+9G=
ENST00000696033.1:c.1160-32591G=	ENSP00000512342.1:n.1160-32591G=
ENST00000367429.9:c.3589G= MANE Select	ENSP00000356399.4:p.Val1197=
ENST00000367429.8:c.3589G=	ENSP00000356399.4:p.Val1197=
ENST00000466229.5:n.6687G=
NM_000186.3:c.3589G= , LRG_47t1:c.3589G=	NP_000177.2:p.Val1197=
XR_001737134.2:n.3775G=
NM_000186.4:c.3589G= MANE Select	NP_000177.2:p.Val1197=