Canonical Allele Identifier: CA343983781

Gene: CFH

Linked Data

• COSMIC: COSM5379009
• MyVariant Identifiers: chr1:g.196712692G>A (hg19) ; chr1:g.196743562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743562G>A , CM000663.2:g.196743562G>A	GRCh38
NC_000001.10:g.196712692G>A , CM000663.1:g.196712692G>A	GRCh37
NC_000001.9:g.194979315G>A	NCBI36
NG_007259.1:g.96552G>A , LRG_47:g.96552G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4272G>A
ENST00000695970.1:c.3070G>A	ENSP00000512297.1:p.Glu1024Lys
ENST00000695971.1:c.3223G>A	ENSP00000512298.1:p.Glu1075Lys
ENST00000695972.1:c.*321G>A	ENSP00000512299.1:n.*321G>A
ENST00000695973.1:c.*1608G>A	ENSP00000512300.1:n.*1608G>A
ENST00000695974.1:c.3067G>A	ENSP00000512301.1:p.Glu1023Lys
ENST00000695975.1:c.*1371G>A	ENSP00000512302.1:n.*1371G>A
ENST00000695976.1:c.3055G>A	ENSP00000512303.1:p.Glu1019Lys
ENST00000695981.1:c.3244G>A	ENSP00000512306.1:p.Glu1082Lys
ENST00000695984.1:c.1252G>A	ENSP00000512309.1:p.Glu418Lys
ENST00000695986.1:c.*2895G>A	ENSP00000512311.1:n.*2895G>A
ENST00000696026.1:c.*1526G>A	ENSP00000512335.1:n.*1526G>A
ENST00000696027.1:c.3238G>A	ENSP00000512336.1:p.Glu1080Lys
ENST00000696028.1:c.3172G>A	ENSP00000512337.1:p.Glu1058Lys
ENST00000696029.1:c.3238G>A	ENSP00000512338.1:p.Glu1080Lys
ENST00000696031.1:c.*2762G>A	ENSP00000512340.1:n.*2762G>A
ENST00000696032.1:c.3244G>A	ENSP00000512341.1:p.Glu1082Lys
ENST00000696033.1:c.1160-36235G>A	ENSP00000512342.1:n.1160-36235G>A
ENST00000367429.9:c.3244G>A MANE Select	ENSP00000356399.4:p.Glu1082Lys
ENST00000367429.8:c.3244G>A	ENSP00000356399.4:p.Glu1082Lys
ENST00000466229.5:n.6342G>A
NM_000186.3:c.3244G>A , LRG_47t1:c.3244G>A	NP_000177.2:p.Glu1082Lys
XR_001737134.2:n.3430G>A
NM_000186.4:c.3244G>A MANE Select	NP_000177.2:p.Glu1082Lys