Canonical Allele Identifier: CA422663856

Gene: CFH

Linked Data

• gnomAD v4: 1-196747289-G-A
• MyVariant Identifiers: chr1:g.196716419G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747289G>A , CM000663.2:g.196747289G>A	GRCh38
NC_000001.10:g.196716419G>A , CM000663.1:g.196716419G>A	GRCh37
NC_000001.9:g.194983042G>A	NCBI36
NG_007259.1:g.100279G>A , LRG_47:g.100279G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4700G>A
ENST00000695970.1:c.3498G>A	ENSP00000512297.1:p.Glu1166=
ENST00000695971.1:c.3651G>A	ENSP00000512298.1:p.Glu1217=
ENST00000695972.1:c.*749G>A	ENSP00000512299.1:n.*749G>A
ENST00000695973.1:c.*2036G>A	ENSP00000512300.1:n.*2036G>A
ENST00000695974.1:c.3495G>A	ENSP00000512301.1:p.Glu1165=
ENST00000695975.1:c.*1799G>A	ENSP00000512302.1:n.*1799G>A
ENST00000695976.1:c.3483G>A	ENSP00000512303.1:p.Glu1161=
ENST00000695981.1:c.3580+92G>A	ENSP00000512306.1:n.3580+92G>A
ENST00000695984.1:c.1680G>A	ENSP00000512309.1:p.Glu560=
ENST00000695986.1:c.*3323G>A	ENSP00000512311.1:n.*3323G>A
ENST00000695990.1:n.706G>A
ENST00000696026.1:c.*1954G>A	ENSP00000512335.1:n.*1954G>A
ENST00000696027.1:c.3666G>A	ENSP00000512336.1:p.Glu1222=
ENST00000696028.1:c.3600G>A	ENSP00000512337.1:p.Glu1200=
ENST00000696029.1:c.3666G>A	ENSP00000512338.1:p.Glu1222=
ENST00000696031.1:c.*3190G>A	ENSP00000512340.1:n.*3190G>A
ENST00000696032.1:c.3580+92G>A	ENSP00000512341.1:n.3580+92G>A
ENST00000696033.1:c.1160-32508G>A	ENSP00000512342.1:n.1160-32508G>A
ENST00000367429.9:c.3672G>A MANE Select	ENSP00000356399.4:p.Glu1224=
ENST00000367429.8:c.3672G>A	ENSP00000356399.4:p.Glu1224=
ENST00000466229.5:n.6770G>A
NM_000186.3:c.3672G>A , LRG_47t1:c.3672G>A	NP_000177.2:p.Glu1224=
XR_001737134.2:n.3858G>A
NM_000186.4:c.3672G>A MANE Select	NP_000177.2:p.Glu1224=