Canonical Allele Identifier: CA1217769040

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743616C= , CM000663.2:g.196743616C=	GRCh38
NC_000001.10:g.196712746C= , CM000663.1:g.196712746C=	GRCh37
NC_000001.9:g.194979369C=	NCBI36
NG_007259.1:g.96606C= , LRG_47:g.96606C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4326C=
ENST00000695970.1:c.3124C=	ENSP00000512297.1:p.Pro1042=
ENST00000695971.1:c.3277C=	ENSP00000512298.1:p.Pro1093=
ENST00000695972.1:c.*375C=	ENSP00000512299.1:n.*375C=
ENST00000695973.1:c.*1662C=	ENSP00000512300.1:n.*1662C=
ENST00000695974.1:c.3121C=	ENSP00000512301.1:p.Pro1041=
ENST00000695975.1:c.*1425C=	ENSP00000512302.1:n.*1425C=
ENST00000695976.1:c.3109C=	ENSP00000512303.1:p.Pro1037=
ENST00000695981.1:c.3298C=	ENSP00000512306.1:p.Pro1100=
ENST00000695984.1:c.1306C=	ENSP00000512309.1:p.Pro436=
ENST00000695986.1:c.*2949C=	ENSP00000512311.1:n.*2949C=
ENST00000696026.1:c.*1580C=	ENSP00000512335.1:n.*1580C=
ENST00000696027.1:c.3292C=	ENSP00000512336.1:p.Pro1098=
ENST00000696028.1:c.3226C=	ENSP00000512337.1:p.Pro1076=
ENST00000696029.1:c.3292C=	ENSP00000512338.1:p.Pro1098=
ENST00000696031.1:c.*2816C=	ENSP00000512340.1:n.*2816C=
ENST00000696032.1:c.3298C=	ENSP00000512341.1:p.Pro1100=
ENST00000696033.1:c.1160-36181C=	ENSP00000512342.1:n.1160-36181C=
ENST00000367429.9:c.3298C= MANE Select	ENSP00000356399.4:p.Pro1100=
ENST00000367429.8:c.3298C=	ENSP00000356399.4:p.Pro1100=
ENST00000466229.5:n.6396C=
NM_000186.3:c.3298C= , LRG_47t1:c.3298C=	NP_000177.2:p.Pro1100=
XR_001737134.2:n.3484C=
NM_000186.4:c.3298C= MANE Select	NP_000177.2:p.Pro1100=