Canonical Allele Identifier: CA343983893

Gene: CFH

Linked Data

• dbSNP Id: rs1318108073
• gnomAD v3: 1-196743580-G-A
• gnomAD v4: 1-196743580-G-A
• MyVariant Identifiers: chr1:g.196712710G>A (hg19) ; chr1:g.196743580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743580G>A , CM000663.2:g.196743580G>A	GRCh38
NC_000001.10:g.196712710G>A , CM000663.1:g.196712710G>A	GRCh37
NC_000001.9:g.194979333G>A	NCBI36
NG_007259.1:g.96570G>A , LRG_47:g.96570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4290G>A
ENST00000695970.1:c.3088G>A	ENSP00000512297.1:p.Glu1030Lys
ENST00000695971.1:c.3241G>A	ENSP00000512298.1:p.Glu1081Lys
ENST00000695972.1:c.*339G>A	ENSP00000512299.1:n.*339G>A
ENST00000695973.1:c.*1626G>A	ENSP00000512300.1:n.*1626G>A
ENST00000695974.1:c.3085G>A	ENSP00000512301.1:p.Glu1029Lys
ENST00000695975.1:c.*1389G>A	ENSP00000512302.1:n.*1389G>A
ENST00000695976.1:c.3073G>A	ENSP00000512303.1:p.Glu1025Lys
ENST00000695981.1:c.3262G>A	ENSP00000512306.1:p.Glu1088Lys
ENST00000695984.1:c.1270G>A	ENSP00000512309.1:p.Glu424Lys
ENST00000695986.1:c.*2913G>A	ENSP00000512311.1:n.*2913G>A
ENST00000696026.1:c.*1544G>A	ENSP00000512335.1:n.*1544G>A
ENST00000696027.1:c.3256G>A	ENSP00000512336.1:p.Glu1086Lys
ENST00000696028.1:c.3190G>A	ENSP00000512337.1:p.Glu1064Lys
ENST00000696029.1:c.3256G>A	ENSP00000512338.1:p.Glu1086Lys
ENST00000696031.1:c.*2780G>A	ENSP00000512340.1:n.*2780G>A
ENST00000696032.1:c.3262G>A	ENSP00000512341.1:p.Glu1088Lys
ENST00000696033.1:c.1160-36217G>A	ENSP00000512342.1:n.1160-36217G>A
ENST00000367429.9:c.3262G>A MANE Select	ENSP00000356399.4:p.Glu1088Lys
ENST00000367429.8:c.3262G>A	ENSP00000356399.4:p.Glu1088Lys
ENST00000466229.5:n.6360G>A
NM_000186.3:c.3262G>A , LRG_47t1:c.3262G>A	NP_000177.2:p.Glu1088Lys
XR_001737134.2:n.3448G>A
NM_000186.4:c.3262G>A MANE Select	NP_000177.2:p.Glu1088Lys