Canonical Allele Identifier: CA1305899

Gene: CFH

Linked Data

• dbSNP Id: rs545276741
• ExAC: 1:196712740 G / A
• gnomAD v2: 1-196712740-G-A
• gnomAD v3: 1-196743610-G-A
• gnomAD v4: 1-196743610-G-A
• COSMIC: COSM2124849
• MyVariant Identifiers: chr1:g.196712740G>A (hg19) ; chr1:g.196743610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743610G>A , CM000663.2:g.196743610G>A	GRCh38
NC_000001.10:g.196712740G>A , CM000663.1:g.196712740G>A	GRCh37
NC_000001.9:g.194979363G>A	NCBI36
NG_007259.1:g.96600G>A , LRG_47:g.96600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4320G>A
ENST00000695970.1:c.3118G>A	ENSP00000512297.1:p.Glu1040Lys
ENST00000695971.1:c.3271G>A	ENSP00000512298.1:p.Glu1091Lys
ENST00000695972.1:c.*369G>A	ENSP00000512299.1:n.*369G>A
ENST00000695973.1:c.*1656G>A	ENSP00000512300.1:n.*1656G>A
ENST00000695974.1:c.3115G>A	ENSP00000512301.1:p.Glu1039Lys
ENST00000695975.1:c.*1419G>A	ENSP00000512302.1:n.*1419G>A
ENST00000695976.1:c.3103G>A	ENSP00000512303.1:p.Glu1035Lys
ENST00000695981.1:c.3292G>A	ENSP00000512306.1:p.Glu1098Lys
ENST00000695984.1:c.1300G>A	ENSP00000512309.1:p.Glu434Lys
ENST00000695986.1:c.*2943G>A	ENSP00000512311.1:n.*2943G>A
ENST00000696026.1:c.*1574G>A	ENSP00000512335.1:n.*1574G>A
ENST00000696027.1:c.3286G>A	ENSP00000512336.1:p.Glu1096Lys
ENST00000696028.1:c.3220G>A	ENSP00000512337.1:p.Glu1074Lys
ENST00000696029.1:c.3286G>A	ENSP00000512338.1:p.Glu1096Lys
ENST00000696031.1:c.*2810G>A	ENSP00000512340.1:n.*2810G>A
ENST00000696032.1:c.3292G>A	ENSP00000512341.1:p.Glu1098Lys
ENST00000696033.1:c.1160-36187G>A	ENSP00000512342.1:n.1160-36187G>A
ENST00000367429.9:c.3292G>A MANE Select	ENSP00000356399.4:p.Glu1098Lys
ENST00000367429.8:c.3292G>A	ENSP00000356399.4:p.Glu1098Lys
ENST00000466229.5:n.6390G>A
NM_000186.3:c.3292G>A , LRG_47t1:c.3292G>A	NP_000177.2:p.Glu1098Lys
XR_001737134.2:n.3478G>A
NM_000186.4:c.3292G>A MANE Select	NP_000177.2:p.Glu1098Lys