Canonical Allele Identifier: CA1217769123

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743775T= , CM000663.2:g.196743775T=	GRCh38
NC_000001.10:g.196712905T= , CM000663.1:g.196712905T=	GRCh37
NC_000001.9:g.194979528T=	NCBI36
NG_007259.1:g.96765T= , LRG_47:g.96765T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+147T=
ENST00000695970.1:c.3136+147T=	ENSP00000512297.1:n.3136+147T=
ENST00000695971.1:c.3289+147T=	ENSP00000512298.1:n.3289+147T=
ENST00000695972.1:c.*387+147T=	ENSP00000512299.1:n.*387+147T=
ENST00000695973.1:c.*1674+147T=	ENSP00000512300.1:n.*1674+147T=
ENST00000695974.1:c.3133+147T=	ENSP00000512301.1:n.3133+147T=
ENST00000695975.1:c.*1437+147T=	ENSP00000512302.1:n.*1437+147T=
ENST00000695976.1:c.3121+147T=	ENSP00000512303.1:n.3121+147T=
ENST00000695981.1:c.3310+147T=	ENSP00000512306.1:n.3310+147T=
ENST00000695984.1:c.1318+147T=	ENSP00000512309.1:n.1318+147T=
ENST00000695986.1:c.*2961+147T=	ENSP00000512311.1:n.*2961+147T=
ENST00000696026.1:c.*1592+147T=	ENSP00000512335.1:n.*1592+147T=
ENST00000696027.1:c.3304+147T=	ENSP00000512336.1:n.3304+147T=
ENST00000696028.1:c.3238+147T=	ENSP00000512337.1:n.3238+147T=
ENST00000696029.1:c.3304+147T=	ENSP00000512338.1:n.3304+147T=
ENST00000696031.1:c.*2828+147T=	ENSP00000512340.1:n.*2828+147T=
ENST00000696032.1:c.3310+147T=	ENSP00000512341.1:n.3310+147T=
ENST00000696033.1:c.1160-36022T=	ENSP00000512342.1:n.1160-36022T=
ENST00000367429.9:c.3310+147T= MANE Select	ENSP00000356399.4:n.3310+147T=
ENST00000367429.8:c.3310+147T=	ENSP00000356399.4:n.3310+147T=
ENST00000466229.5:n.6408+147T=
NM_000186.3:c.3310+147T= , LRG_47t1:c.3310+147T=	NP_000177.2:n.3310+147T=
XR_001737134.2:n.3496+147T=
NM_000186.4:c.3310+147T= MANE Select	NP_000177.2:n.3310+147T=