Canonical Allele Identifier: CA1140563804

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743466A= , CM000663.2:g.196743466A=	GRCh38
NC_000001.10:g.196712596A= , CM000663.1:g.196712596A=	GRCh37
NC_000001.9:g.194979219A=	NCBI36
NG_007259.1:g.96456A= , LRG_47:g.96456A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4176A=
ENST00000695970.1:c.2974A=	ENSP00000512297.1:p.Asn992=
ENST00000695971.1:c.3127A=	ENSP00000512298.1:p.Asn1043=
ENST00000695972.1:c.*225A=	ENSP00000512299.1:n.*225A=
ENST00000695973.1:c.*1512A=	ENSP00000512300.1:n.*1512A=
ENST00000695974.1:c.2971A=	ENSP00000512301.1:p.Asn991=
ENST00000695975.1:c.*1275A=	ENSP00000512302.1:n.*1275A=
ENST00000695976.1:c.2959A=	ENSP00000512303.1:p.Asn987=
ENST00000695981.1:c.3148A=	ENSP00000512306.1:p.Asn1050=
ENST00000695984.1:c.1156A=	ENSP00000512309.1:p.Asn386=
ENST00000695986.1:c.*2799A=	ENSP00000512311.1:n.*2799A=
ENST00000696026.1:c.*1430A=	ENSP00000512335.1:n.*1430A=
ENST00000696027.1:c.3142A=	ENSP00000512336.1:p.Asn1048=
ENST00000696028.1:c.3076A=	ENSP00000512337.1:p.Asn1026=
ENST00000696029.1:c.3142A=	ENSP00000512338.1:p.Asn1048=
ENST00000696031.1:c.*2666A=	ENSP00000512340.1:n.*2666A=
ENST00000696032.1:c.3148A=	ENSP00000512341.1:p.Asn1050=
ENST00000696033.1:c.1160-36331A=	ENSP00000512342.1:n.1160-36331A=
ENST00000367429.9:c.3148A= MANE Select	ENSP00000356399.4:p.Asn1050=
ENST00000367429.8:c.3148A=	ENSP00000356399.4:p.Asn1050=
ENST00000466229.5:n.6246A=
NM_000186.3:c.3148A= , LRG_47t1:c.3148A=	NP_000177.2:p.Asn1050=
XR_001737134.2:n.3334A=
NM_000186.4:c.3148A= MANE Select	NP_000177.2:p.Asn1050=