Canonical Allele Identifier: CA1217770737

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747114C= , CM000663.2:g.196747114C=	GRCh38
NC_000001.10:g.196716244C= , CM000663.1:g.196716244C=	GRCh37
NC_000001.9:g.194982867C=	NCBI36
NG_007259.1:g.100104C= , LRG_47:g.100104C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4525C=
ENST00000695970.1:c.3323C=	ENSP00000512297.1:p.Pro1108=
ENST00000695971.1:c.3476C=	ENSP00000512298.1:p.Pro1159=
ENST00000695972.1:c.*574C=	ENSP00000512299.1:n.*574C=
ENST00000695973.1:c.*1861C=	ENSP00000512300.1:n.*1861C=
ENST00000695974.1:c.3320C=	ENSP00000512301.1:p.Pro1107=
ENST00000695975.1:c.*1624C=	ENSP00000512302.1:n.*1624C=
ENST00000695976.1:c.3308C=	ENSP00000512303.1:p.Pro1103=
ENST00000695981.1:c.3497C=	ENSP00000512306.1:p.Pro1166=
ENST00000695984.1:c.1505C=	ENSP00000512309.1:p.Pro502=
ENST00000695986.1:c.*3148C=	ENSP00000512311.1:n.*3148C=
ENST00000695990.1:n.531C=
ENST00000696026.1:c.*1779C=	ENSP00000512335.1:n.*1779C=
ENST00000696027.1:c.3491C=	ENSP00000512336.1:p.Pro1164=
ENST00000696028.1:c.3425C=	ENSP00000512337.1:p.Pro1142=
ENST00000696029.1:c.3491C=	ENSP00000512338.1:p.Pro1164=
ENST00000696031.1:c.*3015C=	ENSP00000512340.1:n.*3015C=
ENST00000696032.1:c.3497C=	ENSP00000512341.1:p.Pro1166=
ENST00000696033.1:c.1160-32683C=	ENSP00000512342.1:n.1160-32683C=
ENST00000367429.9:c.3497C= MANE Select	ENSP00000356399.4:p.Pro1166=
ENST00000367429.8:c.3497C=	ENSP00000356399.4:p.Pro1166=
ENST00000466229.5:n.6595C=
NM_000186.3:c.3497C= , LRG_47t1:c.3497C=	NP_000177.2:p.Pro1166=
XR_001737134.2:n.3683C=
NM_000186.4:c.3497C= MANE Select	NP_000177.2:p.Pro1166=