Canonical Allele Identifier: CA1217769034

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743603C= , CM000663.2:g.196743603C=	GRCh38
NC_000001.10:g.196712733C= , CM000663.1:g.196712733C=	GRCh37
NC_000001.9:g.194979356C=	NCBI36
NG_007259.1:g.96593C= , LRG_47:g.96593C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4313C=
ENST00000695970.1:c.3111C=	ENSP00000512297.1:p.Asn1037=
ENST00000695971.1:c.3264C=	ENSP00000512298.1:p.Asn1088=
ENST00000695972.1:c.*362C=	ENSP00000512299.1:n.*362C=
ENST00000695973.1:c.*1649C=	ENSP00000512300.1:n.*1649C=
ENST00000695974.1:c.3108C=	ENSP00000512301.1:p.Asn1036=
ENST00000695975.1:c.*1412C=	ENSP00000512302.1:n.*1412C=
ENST00000695976.1:c.3096C=	ENSP00000512303.1:p.Asn1032=
ENST00000695981.1:c.3285C=	ENSP00000512306.1:p.Asn1095=
ENST00000695984.1:c.1293C=	ENSP00000512309.1:p.Asn431=
ENST00000695986.1:c.*2936C=	ENSP00000512311.1:n.*2936C=
ENST00000696026.1:c.*1567C=	ENSP00000512335.1:n.*1567C=
ENST00000696027.1:c.3279C=	ENSP00000512336.1:p.Asn1093=
ENST00000696028.1:c.3213C=	ENSP00000512337.1:p.Asn1071=
ENST00000696029.1:c.3279C=	ENSP00000512338.1:p.Asn1093=
ENST00000696031.1:c.*2803C=	ENSP00000512340.1:n.*2803C=
ENST00000696032.1:c.3285C=	ENSP00000512341.1:p.Asn1095=
ENST00000696033.1:c.1160-36194C=	ENSP00000512342.1:n.1160-36194C=
ENST00000367429.9:c.3285C= MANE Select	ENSP00000356399.4:p.Asn1095=
ENST00000367429.8:c.3285C=	ENSP00000356399.4:p.Asn1095=
ENST00000466229.5:n.6383C=
NM_000186.3:c.3285C= , LRG_47t1:c.3285C=	NP_000177.2:p.Asn1095=
XR_001737134.2:n.3471C=
NM_000186.4:c.3285C= MANE Select	NP_000177.2:p.Asn1095=