Canonical Allele Identifier: CA343982730

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712583C>A (hg19) ; chr1:g.196743453C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743453C>A , CM000663.2:g.196743453C>A	GRCh38
NC_000001.10:g.196712583C>A , CM000663.1:g.196712583C>A	GRCh37
NC_000001.9:g.194979206C>A	NCBI36
NG_007259.1:g.96443C>A , LRG_47:g.96443C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4163C>A
ENST00000695970.1:c.2961C>A	ENSP00000512297.1:p.Asp987Glu
ENST00000695971.1:c.3114C>A	ENSP00000512298.1:p.Asp1038Glu
ENST00000695972.1:c.*212C>A	ENSP00000512299.1:n.*212C>A
ENST00000695973.1:c.*1499C>A	ENSP00000512300.1:n.*1499C>A
ENST00000695974.1:c.2958C>A	ENSP00000512301.1:p.Asp986Glu
ENST00000695975.1:c.*1262C>A	ENSP00000512302.1:n.*1262C>A
ENST00000695976.1:c.2946C>A	ENSP00000512303.1:p.Asp982Glu
ENST00000695981.1:c.3135C>A	ENSP00000512306.1:p.Asp1045Glu
ENST00000695984.1:c.1143C>A	ENSP00000512309.1:p.Asp381Glu
ENST00000695986.1:c.*2786C>A	ENSP00000512311.1:n.*2786C>A
ENST00000696026.1:c.*1417C>A	ENSP00000512335.1:n.*1417C>A
ENST00000696027.1:c.3129C>A	ENSP00000512336.1:p.Asp1043Glu
ENST00000696028.1:c.3063C>A	ENSP00000512337.1:p.Asp1021Glu
ENST00000696029.1:c.3129C>A	ENSP00000512338.1:p.Asp1043Glu
ENST00000696031.1:c.*2653C>A	ENSP00000512340.1:n.*2653C>A
ENST00000696032.1:c.3135C>A	ENSP00000512341.1:p.Asp1045Glu
ENST00000696033.1:c.1160-36344C>A	ENSP00000512342.1:n.1160-36344C>A
ENST00000367429.9:c.3135C>A MANE Select	ENSP00000356399.4:p.Asp1045Glu
ENST00000367429.8:c.3135C>A	ENSP00000356399.4:p.Asp1045Glu
ENST00000466229.5:n.6233C>A
NM_000186.3:c.3135C>A , LRG_47t1:c.3135C>A	NP_000177.2:p.Asp1045Glu
XR_001737134.2:n.3321C>A
NM_000186.4:c.3135C>A MANE Select	NP_000177.2:p.Asp1045Glu