Canonical Allele Identifier: CA1217770779

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747237T= , CM000663.2:g.196747237T=	GRCh38
NC_000001.10:g.196716367T= , CM000663.1:g.196716367T=	GRCh37
NC_000001.9:g.194982990T=	NCBI36
NG_007259.1:g.100227T= , LRG_47:g.100227T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4648T=
ENST00000695970.1:c.3446T=	ENSP00000512297.1:p.Leu1149=
ENST00000695971.1:c.3599T=	ENSP00000512298.1:p.Leu1200=
ENST00000695972.1:c.*697T=	ENSP00000512299.1:n.*697T=
ENST00000695973.1:c.*1984T=	ENSP00000512300.1:n.*1984T=
ENST00000695974.1:c.3443T=	ENSP00000512301.1:p.Leu1148=
ENST00000695975.1:c.*1747T=	ENSP00000512302.1:n.*1747T=
ENST00000695976.1:c.3431T=	ENSP00000512303.1:p.Leu1144=
ENST00000695981.1:c.3580+40T=	ENSP00000512306.1:n.3580+40T=
ENST00000695984.1:c.1628T=	ENSP00000512309.1:p.Leu543=
ENST00000695986.1:c.*3271T=	ENSP00000512311.1:n.*3271T=
ENST00000695990.1:n.654T=
ENST00000696026.1:c.*1902T=	ENSP00000512335.1:n.*1902T=
ENST00000696027.1:c.3614T=	ENSP00000512336.1:p.Leu1205=
ENST00000696028.1:c.3548T=	ENSP00000512337.1:p.Leu1183=
ENST00000696029.1:c.3614T=	ENSP00000512338.1:p.Leu1205=
ENST00000696031.1:c.*3138T=	ENSP00000512340.1:n.*3138T=
ENST00000696032.1:c.3580+40T=	ENSP00000512341.1:n.3580+40T=
ENST00000696033.1:c.1160-32560T=	ENSP00000512342.1:n.1160-32560T=
ENST00000367429.9:c.3620T= MANE Select	ENSP00000356399.4:p.Leu1207=
ENST00000367429.8:c.3620T=	ENSP00000356399.4:p.Leu1207=
ENST00000466229.5:n.6718T=
NM_000186.3:c.3620T= , LRG_47t1:c.3620T=	NP_000177.2:p.Leu1207=
XR_001737134.2:n.3806T=
NM_000186.4:c.3620T= MANE Select	NP_000177.2:p.Leu1207=