Canonical Allele Identifier: CA1217768993

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743516A= , CM000663.2:g.196743516A=	GRCh38
NC_000001.10:g.196712646A= , CM000663.1:g.196712646A=	GRCh37
NC_000001.9:g.194979269A=	NCBI36
NG_007259.1:g.96506A= , LRG_47:g.96506A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4226A=
ENST00000695970.1:c.3024A=	ENSP00000512297.1:p.Lys1008=
ENST00000695971.1:c.3177A=	ENSP00000512298.1:p.Lys1059=
ENST00000695972.1:c.*275A=	ENSP00000512299.1:n.*275A=
ENST00000695973.1:c.*1562A=	ENSP00000512300.1:n.*1562A=
ENST00000695974.1:c.3021A=	ENSP00000512301.1:p.Lys1007=
ENST00000695975.1:c.*1325A=	ENSP00000512302.1:n.*1325A=
ENST00000695976.1:c.3009A=	ENSP00000512303.1:p.Lys1003=
ENST00000695981.1:c.3198A=	ENSP00000512306.1:p.Lys1066=
ENST00000695984.1:c.1206A=	ENSP00000512309.1:p.Lys402=
ENST00000695986.1:c.*2849A=	ENSP00000512311.1:n.*2849A=
ENST00000696026.1:c.*1480A=	ENSP00000512335.1:n.*1480A=
ENST00000696027.1:c.3192A=	ENSP00000512336.1:p.Lys1064=
ENST00000696028.1:c.3126A=	ENSP00000512337.1:p.Lys1042=
ENST00000696029.1:c.3192A=	ENSP00000512338.1:p.Lys1064=
ENST00000696031.1:c.*2716A=	ENSP00000512340.1:n.*2716A=
ENST00000696032.1:c.3198A=	ENSP00000512341.1:p.Lys1066=
ENST00000696033.1:c.1160-36281A=	ENSP00000512342.1:n.1160-36281A=
ENST00000367429.9:c.3198A= MANE Select	ENSP00000356399.4:p.Lys1066=
ENST00000367429.8:c.3198A=	ENSP00000356399.4:p.Lys1066=
ENST00000466229.5:n.6296A=
NM_000186.3:c.3198A= , LRG_47t1:c.3198A=	NP_000177.2:p.Lys1066=
XR_001737134.2:n.3384A=
NM_000186.4:c.3198A= MANE Select	NP_000177.2:p.Lys1066=