Canonical Allele Identifier: CA1146082507

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747439T= , CM000663.2:g.196747439T=	GRCh38
NC_000001.10:g.196716569T= , CM000663.1:g.196716569T=	GRCh37
NC_000001.9:g.194983192T=	NCBI36
NG_007259.1:g.100429T= , LRG_47:g.100429T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4850T=
ENST00000695970.1:c.*126T=	ENSP00000512297.1:n.*126T=
ENST00000695971.1:c.*126T=	ENSP00000512298.1:n.*126T=
ENST00000695972.1:c.*899T=	ENSP00000512299.1:n.*899T=
ENST00000695973.1:c.*2186T=	ENSP00000512300.1:n.*2186T=
ENST00000695974.1:c.*126T=	ENSP00000512301.1:n.*126T=
ENST00000695975.1:c.*1949T=	ENSP00000512302.1:n.*1949T=
ENST00000695976.1:c.*126T=	ENSP00000512303.1:n.*126T=
ENST00000695981.1:c.3580+242T=	ENSP00000512306.1:n.3580+242T=
ENST00000695984.1:c.*126T=	ENSP00000512309.1:n.*126T=
ENST00000695986.1:c.*3473T=	ENSP00000512311.1:n.*3473T=
ENST00000695990.1:n.856T=
ENST00000696026.1:c.*2104T=	ENSP00000512335.1:n.*2104T=
ENST00000696027.1:c.*126T=	ENSP00000512336.1:n.*126T=
ENST00000696028.1:c.*126T=	ENSP00000512337.1:n.*126T=
ENST00000696029.1:c.*126T=	ENSP00000512338.1:n.*126T=
ENST00000696031.1:c.*3340T=	ENSP00000512340.1:n.*3340T=
ENST00000696032.1:c.3580+242T=	ENSP00000512341.1:n.3580+242T=
ENST00000696033.1:c.1160-32358T=	ENSP00000512342.1:n.1160-32358T=
ENST00000367429.9:c.*126T= MANE Select	ENSP00000356399.4:n.*126T=
ENST00000367429.8:c.*126T=	ENSP00000356399.4:n.*126T=
ENST00000466229.5:n.6920T=
NM_000186.3:c.*126T= , LRG_47t1:c.*126T=	NP_000177.2:n.*126T=
XR_001737134.2:n.4008T=
NM_000186.4:c.*126T= MANE Select	NP_000177.2:n.*126T=