Canonical Allele Identifier: CA1217768966

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743459C= , CM000663.2:g.196743459C=	GRCh38
NC_000001.10:g.196712589C= , CM000663.1:g.196712589C=	GRCh37
NC_000001.9:g.194979212C=	NCBI36
NG_007259.1:g.96449C= , LRG_47:g.96449C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4169C=
ENST00000695970.1:c.2967C=	ENSP00000512297.1:p.Ser989=
ENST00000695971.1:c.3120C=	ENSP00000512298.1:p.Ser1040=
ENST00000695972.1:c.*218C=	ENSP00000512299.1:n.*218C=
ENST00000695973.1:c.*1505C=	ENSP00000512300.1:n.*1505C=
ENST00000695974.1:c.2964C=	ENSP00000512301.1:p.Ser988=
ENST00000695975.1:c.*1268C=	ENSP00000512302.1:n.*1268C=
ENST00000695976.1:c.2952C=	ENSP00000512303.1:p.Ser984=
ENST00000695981.1:c.3141C=	ENSP00000512306.1:p.Ser1047=
ENST00000695984.1:c.1149C=	ENSP00000512309.1:p.Ser383=
ENST00000695986.1:c.*2792C=	ENSP00000512311.1:n.*2792C=
ENST00000696026.1:c.*1423C=	ENSP00000512335.1:n.*1423C=
ENST00000696027.1:c.3135C=	ENSP00000512336.1:p.Ser1045=
ENST00000696028.1:c.3069C=	ENSP00000512337.1:p.Ser1023=
ENST00000696029.1:c.3135C=	ENSP00000512338.1:p.Ser1045=
ENST00000696031.1:c.*2659C=	ENSP00000512340.1:n.*2659C=
ENST00000696032.1:c.3141C=	ENSP00000512341.1:p.Ser1047=
ENST00000696033.1:c.1160-36338C=	ENSP00000512342.1:n.1160-36338C=
ENST00000367429.9:c.3141C= MANE Select	ENSP00000356399.4:p.Ser1047=
ENST00000367429.8:c.3141C=	ENSP00000356399.4:p.Ser1047=
ENST00000466229.5:n.6239C=
NM_000186.3:c.3141C= , LRG_47t1:c.3141C=	NP_000177.2:p.Ser1047=
XR_001737134.2:n.3327C=
NM_000186.4:c.3141C= MANE Select	NP_000177.2:p.Ser1047=