Canonical Allele Identifier: CA1217770681

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746997G= , CM000663.2:g.196746997G=	GRCh38
NC_000001.10:g.196716127G= , CM000663.1:g.196716127G=	GRCh37
NC_000001.9:g.194982750G=	NCBI36
NG_007259.1:g.99987G= , LRG_47:g.99987G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-114G=
ENST00000695970.1:c.3320-114G=	ENSP00000512297.1:n.3320-114G=
ENST00000695971.1:c.3473-114G=	ENSP00000512298.1:n.3473-114G=
ENST00000695972.1:c.*571-114G=	ENSP00000512299.1:n.*571-114G=
ENST00000695973.1:c.*1858-114G=	ENSP00000512300.1:n.*1858-114G=
ENST00000695974.1:c.3317-114G=	ENSP00000512301.1:n.3317-114G=
ENST00000695975.1:c.*1621-114G=	ENSP00000512302.1:n.*1621-114G=
ENST00000695976.1:c.3305-114G=	ENSP00000512303.1:n.3305-114G=
ENST00000695981.1:c.3494-114G=	ENSP00000512306.1:n.3494-114G=
ENST00000695984.1:c.1502-114G=	ENSP00000512309.1:n.1502-114G=
ENST00000695986.1:c.*3145-114G=	ENSP00000512311.1:n.*3145-114G=
ENST00000695990.1:n.528-114G=
ENST00000696026.1:c.*1776-114G=	ENSP00000512335.1:n.*1776-114G=
ENST00000696027.1:c.3488-114G=	ENSP00000512336.1:n.3488-114G=
ENST00000696028.1:c.3422-114G=	ENSP00000512337.1:n.3422-114G=
ENST00000696029.1:c.3488-114G=	ENSP00000512338.1:n.3488-114G=
ENST00000696031.1:c.*3012-114G=	ENSP00000512340.1:n.*3012-114G=
ENST00000696032.1:c.3494-114G=	ENSP00000512341.1:n.3494-114G=
ENST00000696033.1:c.1160-32800G=	ENSP00000512342.1:n.1160-32800G=
ENST00000367429.9:c.3494-114G= MANE Select	ENSP00000356399.4:n.3494-114G=
ENST00000367429.8:c.3494-114G=	ENSP00000356399.4:n.3494-114G=
ENST00000466229.5:n.6592-114G=
NM_000186.3:c.3494-114G= , LRG_47t1:c.3494-114G=	NP_000177.2:n.3494-114G=
XR_001737134.2:n.3680-114G=
NM_000186.4:c.3494-114G= MANE Select	NP_000177.2:n.3494-114G=