Canonical Allele Identifier: CA1217770757

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747170G= , CM000663.2:g.196747170G=	GRCh38
NC_000001.10:g.196716300G= , CM000663.1:g.196716300G=	GRCh37
NC_000001.9:g.194982923G=	NCBI36
NG_007259.1:g.100160G= , LRG_47:g.100160G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4581G=
ENST00000695970.1:c.3379G=	ENSP00000512297.1:p.Ala1127=
ENST00000695971.1:c.3532G=	ENSP00000512298.1:p.Ala1178=
ENST00000695972.1:c.*630G=	ENSP00000512299.1:n.*630G=
ENST00000695973.1:c.*1917G=	ENSP00000512300.1:n.*1917G=
ENST00000695974.1:c.3376G=	ENSP00000512301.1:p.Ala1126=
ENST00000695975.1:c.*1680G=	ENSP00000512302.1:n.*1680G=
ENST00000695976.1:c.3364G=	ENSP00000512303.1:p.Ala1122=
ENST00000695981.1:c.3553G=	ENSP00000512306.1:p.Ala1185=
ENST00000695984.1:c.1561G=	ENSP00000512309.1:p.Ala521=
ENST00000695986.1:c.*3204G=	ENSP00000512311.1:n.*3204G=
ENST00000695990.1:n.587G=
ENST00000696026.1:c.*1835G=	ENSP00000512335.1:n.*1835G=
ENST00000696027.1:c.3547G=	ENSP00000512336.1:p.Ala1183=
ENST00000696028.1:c.3481G=	ENSP00000512337.1:p.Ala1161=
ENST00000696029.1:c.3547G=	ENSP00000512338.1:p.Ala1183=
ENST00000696031.1:c.*3071G=	ENSP00000512340.1:n.*3071G=
ENST00000696032.1:c.3553G=	ENSP00000512341.1:p.Ala1185=
ENST00000696033.1:c.1160-32627G=	ENSP00000512342.1:n.1160-32627G=
ENST00000367429.9:c.3553G= MANE Select	ENSP00000356399.4:p.Ala1185=
ENST00000367429.8:c.3553G=	ENSP00000356399.4:p.Ala1185=
ENST00000466229.5:n.6651G=
NM_000186.3:c.3553G= , LRG_47t1:c.3553G=	NP_000177.2:p.Ala1185=
XR_001737134.2:n.3739G=
NM_000186.4:c.3553G= MANE Select	NP_000177.2:p.Ala1185=