Canonical Allele Identifier: CA1148429340

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743556C= , CM000663.2:g.196743556C=	GRCh38
NC_000001.10:g.196712686C= , CM000663.1:g.196712686C=	GRCh37
NC_000001.9:g.194979309C=	NCBI36
NG_007259.1:g.96546C= , LRG_47:g.96546C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4266C=
ENST00000695970.1:c.3064C=	ENSP00000512297.1:p.Pro1022=
ENST00000695971.1:c.3217C=	ENSP00000512298.1:p.Pro1073=
ENST00000695972.1:c.*315C=	ENSP00000512299.1:n.*315C=
ENST00000695973.1:c.*1602C=	ENSP00000512300.1:n.*1602C=
ENST00000695974.1:c.3061C=	ENSP00000512301.1:p.Pro1021=
ENST00000695975.1:c.*1365C=	ENSP00000512302.1:n.*1365C=
ENST00000695976.1:c.3049C=	ENSP00000512303.1:p.Pro1017=
ENST00000695981.1:c.3238C=	ENSP00000512306.1:p.Pro1080=
ENST00000695984.1:c.1246C=	ENSP00000512309.1:p.Pro416=
ENST00000695986.1:c.*2889C=	ENSP00000512311.1:n.*2889C=
ENST00000696026.1:c.*1520C=	ENSP00000512335.1:n.*1520C=
ENST00000696027.1:c.3232C=	ENSP00000512336.1:p.Pro1078=
ENST00000696028.1:c.3166C=	ENSP00000512337.1:p.Pro1056=
ENST00000696029.1:c.3232C=	ENSP00000512338.1:p.Pro1078=
ENST00000696031.1:c.*2756C=	ENSP00000512340.1:n.*2756C=
ENST00000696032.1:c.3238C=	ENSP00000512341.1:p.Pro1080=
ENST00000696033.1:c.1160-36241C=	ENSP00000512342.1:n.1160-36241C=
ENST00000367429.9:c.3238C= MANE Select	ENSP00000356399.4:p.Pro1080=
ENST00000367429.8:c.3238C=	ENSP00000356399.4:p.Pro1080=
ENST00000466229.5:n.6336C=
NM_000186.3:c.3238C= , LRG_47t1:c.3238C=	NP_000177.2:p.Pro1080=
XR_001737134.2:n.3424C=
NM_000186.4:c.3238C= MANE Select	NP_000177.2:p.Pro1080=