Canonical Allele Identifier: CA1217770738

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747115G= , CM000663.2:g.196747115G=	GRCh38
NC_000001.10:g.196716245G= , CM000663.1:g.196716245G=	GRCh37
NC_000001.9:g.194982868G=	NCBI36
NG_007259.1:g.100105G= , LRG_47:g.100105G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4526G=
ENST00000695970.1:c.3324G=	ENSP00000512297.1:p.Pro1108=
ENST00000695971.1:c.3477G=	ENSP00000512298.1:p.Pro1159=
ENST00000695972.1:c.*575G=	ENSP00000512299.1:n.*575G=
ENST00000695973.1:c.*1862G=	ENSP00000512300.1:n.*1862G=
ENST00000695974.1:c.3321G=	ENSP00000512301.1:p.Pro1107=
ENST00000695975.1:c.*1625G=	ENSP00000512302.1:n.*1625G=
ENST00000695976.1:c.3309G=	ENSP00000512303.1:p.Pro1103=
ENST00000695981.1:c.3498G=	ENSP00000512306.1:p.Pro1166=
ENST00000695984.1:c.1506G=	ENSP00000512309.1:p.Pro502=
ENST00000695986.1:c.*3149G=	ENSP00000512311.1:n.*3149G=
ENST00000695990.1:n.532G=
ENST00000696026.1:c.*1780G=	ENSP00000512335.1:n.*1780G=
ENST00000696027.1:c.3492G=	ENSP00000512336.1:p.Pro1164=
ENST00000696028.1:c.3426G=	ENSP00000512337.1:p.Pro1142=
ENST00000696029.1:c.3492G=	ENSP00000512338.1:p.Pro1164=
ENST00000696031.1:c.*3016G=	ENSP00000512340.1:n.*3016G=
ENST00000696032.1:c.3498G=	ENSP00000512341.1:p.Pro1166=
ENST00000696033.1:c.1160-32682G=	ENSP00000512342.1:n.1160-32682G=
ENST00000367429.9:c.3498G= MANE Select	ENSP00000356399.4:p.Pro1166=
ENST00000367429.8:c.3498G=	ENSP00000356399.4:p.Pro1166=
ENST00000466229.5:n.6596G=
NM_000186.3:c.3498G= , LRG_47t1:c.3498G=	NP_000177.2:p.Pro1166=
XR_001737134.2:n.3684G=
NM_000186.4:c.3498G= MANE Select	NP_000177.2:p.Pro1166=