Canonical Allele Identifier: CA1142217840

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743486T= , CM000663.2:g.196743486T=	GRCh38
NC_000001.10:g.196712616T= , CM000663.1:g.196712616T=	GRCh37
NC_000001.9:g.194979239T=	NCBI36
NG_007259.1:g.96476T= , LRG_47:g.96476T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4196T=
ENST00000695970.1:c.2994T=	ENSP00000512297.1:p.Asn998=
ENST00000695971.1:c.3147T=	ENSP00000512298.1:p.Asn1049=
ENST00000695972.1:c.*245T=	ENSP00000512299.1:n.*245T=
ENST00000695973.1:c.*1532T=	ENSP00000512300.1:n.*1532T=
ENST00000695974.1:c.2991T=	ENSP00000512301.1:p.Asn997=
ENST00000695975.1:c.*1295T=	ENSP00000512302.1:n.*1295T=
ENST00000695976.1:c.2979T=	ENSP00000512303.1:p.Asn993=
ENST00000695981.1:c.3168T=	ENSP00000512306.1:p.Asn1056=
ENST00000695984.1:c.1176T=	ENSP00000512309.1:p.Asn392=
ENST00000695986.1:c.*2819T=	ENSP00000512311.1:n.*2819T=
ENST00000696026.1:c.*1450T=	ENSP00000512335.1:n.*1450T=
ENST00000696027.1:c.3162T=	ENSP00000512336.1:p.Asn1054=
ENST00000696028.1:c.3096T=	ENSP00000512337.1:p.Asn1032=
ENST00000696029.1:c.3162T=	ENSP00000512338.1:p.Asn1054=
ENST00000696031.1:c.*2686T=	ENSP00000512340.1:n.*2686T=
ENST00000696032.1:c.3168T=	ENSP00000512341.1:p.Asn1056=
ENST00000696033.1:c.1160-36311T=	ENSP00000512342.1:n.1160-36311T=
ENST00000367429.9:c.3168T= MANE Select	ENSP00000356399.4:p.Asn1056=
ENST00000367429.8:c.3168T=	ENSP00000356399.4:p.Asn1056=
ENST00000466229.5:n.6266T=
NM_000186.3:c.3168T= , LRG_47t1:c.3168T=	NP_000177.2:p.Asn1056=
XR_001737134.2:n.3354T=
NM_000186.4:c.3168T= MANE Select	NP_000177.2:p.Asn1056=