Canonical Allele Identifier: CA1217768982

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743500C= , CM000663.2:g.196743500C=	GRCh38
NC_000001.10:g.196712630C= , CM000663.1:g.196712630C=	GRCh37
NC_000001.9:g.194979253C=	NCBI36
NG_007259.1:g.96490C= , LRG_47:g.96490C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4210C=
ENST00000695970.1:c.3008C=	ENSP00000512297.1:p.Ser1003=
ENST00000695971.1:c.3161C=	ENSP00000512298.1:p.Ser1054=
ENST00000695972.1:c.*259C=	ENSP00000512299.1:n.*259C=
ENST00000695973.1:c.*1546C=	ENSP00000512300.1:n.*1546C=
ENST00000695974.1:c.3005C=	ENSP00000512301.1:p.Ser1002=
ENST00000695975.1:c.*1309C=	ENSP00000512302.1:n.*1309C=
ENST00000695976.1:c.2993C=	ENSP00000512303.1:p.Ser998=
ENST00000695981.1:c.3182C=	ENSP00000512306.1:p.Ser1061=
ENST00000695984.1:c.1190C=	ENSP00000512309.1:p.Ser397=
ENST00000695986.1:c.*2833C=	ENSP00000512311.1:n.*2833C=
ENST00000696026.1:c.*1464C=	ENSP00000512335.1:n.*1464C=
ENST00000696027.1:c.3176C=	ENSP00000512336.1:p.Ser1059=
ENST00000696028.1:c.3110C=	ENSP00000512337.1:p.Ser1037=
ENST00000696029.1:c.3176C=	ENSP00000512338.1:p.Ser1059=
ENST00000696031.1:c.*2700C=	ENSP00000512340.1:n.*2700C=
ENST00000696032.1:c.3182C=	ENSP00000512341.1:p.Ser1061=
ENST00000696033.1:c.1160-36297C=	ENSP00000512342.1:n.1160-36297C=
ENST00000367429.9:c.3182C= MANE Select	ENSP00000356399.4:p.Ser1061=
ENST00000367429.8:c.3182C=	ENSP00000356399.4:p.Ser1061=
ENST00000466229.5:n.6280C=
NM_000186.3:c.3182C= , LRG_47t1:c.3182C=	NP_000177.2:p.Ser1061=
XR_001737134.2:n.3368C=
NM_000186.4:c.3182C= MANE Select	NP_000177.2:p.Ser1061=