Canonical Allele Identifier: CA1217770744

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747137A= , CM000663.2:g.196747137A=	GRCh38
NC_000001.10:g.196716267A= , CM000663.1:g.196716267A=	GRCh37
NC_000001.9:g.194982890A=	NCBI36
NG_007259.1:g.100127A= , LRG_47:g.100127A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4548A=
ENST00000695970.1:c.3346A=	ENSP00000512297.1:p.Met1116=
ENST00000695971.1:c.3499A=	ENSP00000512298.1:p.Met1167=
ENST00000695972.1:c.*597A=	ENSP00000512299.1:n.*597A=
ENST00000695973.1:c.*1884A=	ENSP00000512300.1:n.*1884A=
ENST00000695974.1:c.3343A=	ENSP00000512301.1:p.Met1115=
ENST00000695975.1:c.*1647A=	ENSP00000512302.1:n.*1647A=
ENST00000695976.1:c.3331A=	ENSP00000512303.1:p.Met1111=
ENST00000695981.1:c.3520A=	ENSP00000512306.1:p.Met1174=
ENST00000695984.1:c.1528A=	ENSP00000512309.1:p.Met510=
ENST00000695986.1:c.*3171A=	ENSP00000512311.1:n.*3171A=
ENST00000695990.1:n.554A=
ENST00000696026.1:c.*1802A=	ENSP00000512335.1:n.*1802A=
ENST00000696027.1:c.3514A=	ENSP00000512336.1:p.Met1172=
ENST00000696028.1:c.3448A=	ENSP00000512337.1:p.Met1150=
ENST00000696029.1:c.3514A=	ENSP00000512338.1:p.Met1172=
ENST00000696031.1:c.*3038A=	ENSP00000512340.1:n.*3038A=
ENST00000696032.1:c.3520A=	ENSP00000512341.1:p.Met1174=
ENST00000696033.1:c.1160-32660A=	ENSP00000512342.1:n.1160-32660A=
ENST00000367429.9:c.3520A= MANE Select	ENSP00000356399.4:p.Met1174=
ENST00000367429.8:c.3520A=	ENSP00000356399.4:p.Met1174=
ENST00000466229.5:n.6618A=
NM_000186.3:c.3520A= , LRG_47t1:c.3520A=	NP_000177.2:p.Met1174=
XR_001737134.2:n.3706A=
NM_000186.4:c.3520A= MANE Select	NP_000177.2:p.Met1174=