Canonical Allele Identifier: CA1142048909

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747224C= , CM000663.2:g.196747224C=	GRCh38
NC_000001.10:g.196716354C= , CM000663.1:g.196716354C=	GRCh37
NC_000001.9:g.194982977C=	NCBI36
NG_007259.1:g.100214C= , LRG_47:g.100214C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4635C=
ENST00000695970.1:c.3433C=	ENSP00000512297.1:p.Arg1145=
ENST00000695971.1:c.3586C=	ENSP00000512298.1:p.Arg1196=
ENST00000695972.1:c.*684C=	ENSP00000512299.1:n.*684C=
ENST00000695973.1:c.*1971C=	ENSP00000512300.1:n.*1971C=
ENST00000695974.1:c.3430C=	ENSP00000512301.1:p.Arg1144=
ENST00000695975.1:c.*1734C=	ENSP00000512302.1:n.*1734C=
ENST00000695976.1:c.3418C=	ENSP00000512303.1:p.Arg1140=
ENST00000695981.1:c.3580+27C=	ENSP00000512306.1:n.3580+27C=
ENST00000695984.1:c.1615C=	ENSP00000512309.1:p.Arg539=
ENST00000695986.1:c.*3258C=	ENSP00000512311.1:n.*3258C=
ENST00000695990.1:n.641C=
ENST00000696026.1:c.*1889C=	ENSP00000512335.1:n.*1889C=
ENST00000696027.1:c.3601C=	ENSP00000512336.1:p.Arg1201=
ENST00000696028.1:c.3535C=	ENSP00000512337.1:p.Arg1179=
ENST00000696029.1:c.3601C=	ENSP00000512338.1:p.Arg1201=
ENST00000696031.1:c.*3125C=	ENSP00000512340.1:n.*3125C=
ENST00000696032.1:c.3580+27C=	ENSP00000512341.1:n.3580+27C=
ENST00000696033.1:c.1160-32573C=	ENSP00000512342.1:n.1160-32573C=
ENST00000367429.9:c.3607C= MANE Select	ENSP00000356399.4:p.Arg1203=
ENST00000367429.8:c.3607C=	ENSP00000356399.4:p.Arg1203=
ENST00000466229.5:n.6705C=
NM_000186.3:c.3607C= , LRG_47t1:c.3607C=	NP_000177.2:p.Arg1203=
XR_001737134.2:n.3793C=
NM_000186.4:c.3607C= MANE Select	NP_000177.2:p.Arg1203=