Canonical Allele Identifier: CA1217770771

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747221A= , CM000663.2:g.196747221A=	GRCh38
NC_000001.10:g.196716351A= , CM000663.1:g.196716351A=	GRCh37
NC_000001.9:g.194982974A=	NCBI36
NG_007259.1:g.100211A= , LRG_47:g.100211A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4632A=
ENST00000695970.1:c.3430A=	ENSP00000512297.1:p.Lys1144=
ENST00000695971.1:c.3583A=	ENSP00000512298.1:p.Lys1195=
ENST00000695972.1:c.*681A=	ENSP00000512299.1:n.*681A=
ENST00000695973.1:c.*1968A=	ENSP00000512300.1:n.*1968A=
ENST00000695974.1:c.3427A=	ENSP00000512301.1:p.Lys1143=
ENST00000695975.1:c.*1731A=	ENSP00000512302.1:n.*1731A=
ENST00000695976.1:c.3415A=	ENSP00000512303.1:p.Lys1139=
ENST00000695981.1:c.3580+24A=	ENSP00000512306.1:n.3580+24A=
ENST00000695984.1:c.1612A=	ENSP00000512309.1:p.Lys538=
ENST00000695986.1:c.*3255A=	ENSP00000512311.1:n.*3255A=
ENST00000695990.1:n.638A=
ENST00000696026.1:c.*1886A=	ENSP00000512335.1:n.*1886A=
ENST00000696027.1:c.3598A=	ENSP00000512336.1:p.Lys1200=
ENST00000696028.1:c.3532A=	ENSP00000512337.1:p.Lys1178=
ENST00000696029.1:c.3598A=	ENSP00000512338.1:p.Lys1200=
ENST00000696031.1:c.*3122A=	ENSP00000512340.1:n.*3122A=
ENST00000696032.1:c.3580+24A=	ENSP00000512341.1:n.3580+24A=
ENST00000696033.1:c.1160-32576A=	ENSP00000512342.1:n.1160-32576A=
ENST00000367429.9:c.3604A= MANE Select	ENSP00000356399.4:p.Lys1202=
ENST00000367429.8:c.3604A=	ENSP00000356399.4:p.Lys1202=
ENST00000466229.5:n.6702A=
NM_000186.3:c.3604A= , LRG_47t1:c.3604A=	NP_000177.2:p.Lys1202=
XR_001737134.2:n.3790A=
NM_000186.4:c.3604A= MANE Select	NP_000177.2:p.Lys1202=