Canonical Allele Identifier: CA1217770759

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747174A= , CM000663.2:g.196747174A=	GRCh38
NC_000001.10:g.196716304A= , CM000663.1:g.196716304A=	GRCh37
NC_000001.9:g.194982927A=	NCBI36
NG_007259.1:g.100164A= , LRG_47:g.100164A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4585A=
ENST00000695970.1:c.3383A=	ENSP00000512297.1:p.Lys1128=
ENST00000695971.1:c.3536A=	ENSP00000512298.1:p.Lys1179=
ENST00000695972.1:c.*634A=	ENSP00000512299.1:n.*634A=
ENST00000695973.1:c.*1921A=	ENSP00000512300.1:n.*1921A=
ENST00000695974.1:c.3380A=	ENSP00000512301.1:p.Lys1127=
ENST00000695975.1:c.*1684A=	ENSP00000512302.1:n.*1684A=
ENST00000695976.1:c.3368A=	ENSP00000512303.1:p.Lys1123=
ENST00000695981.1:c.3557A=	ENSP00000512306.1:p.Lys1186=
ENST00000695984.1:c.1565A=	ENSP00000512309.1:p.Lys522=
ENST00000695986.1:c.*3208A=	ENSP00000512311.1:n.*3208A=
ENST00000695990.1:n.591A=
ENST00000696026.1:c.*1839A=	ENSP00000512335.1:n.*1839A=
ENST00000696027.1:c.3551A=	ENSP00000512336.1:p.Lys1184=
ENST00000696028.1:c.3485A=	ENSP00000512337.1:p.Lys1162=
ENST00000696029.1:c.3551A=	ENSP00000512338.1:p.Lys1184=
ENST00000696031.1:c.*3075A=	ENSP00000512340.1:n.*3075A=
ENST00000696032.1:c.3557A=	ENSP00000512341.1:p.Lys1186=
ENST00000696033.1:c.1160-32623A=	ENSP00000512342.1:n.1160-32623A=
ENST00000367429.9:c.3557A= MANE Select	ENSP00000356399.4:p.Lys1186=
ENST00000367429.8:c.3557A=	ENSP00000356399.4:p.Lys1186=
ENST00000466229.5:n.6655A=
NM_000186.3:c.3557A= , LRG_47t1:c.3557A=	NP_000177.2:p.Lys1186=
XR_001737134.2:n.3743A=
NM_000186.4:c.3557A= MANE Select	NP_000177.2:p.Lys1186=