Canonical Allele Identifier: CA343987146

Gene: CFH

Linked Data

• COSMIC: COSM2124859
• MyVariant Identifiers: chr1:g.196716270G>A (hg19) ; chr1:g.196747140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747140G>A , CM000663.2:g.196747140G>A	GRCh38
NC_000001.10:g.196716270G>A , CM000663.1:g.196716270G>A	GRCh37
NC_000001.9:g.194982893G>A	NCBI36
NG_007259.1:g.100130G>A , LRG_47:g.100130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4551G>A
ENST00000695970.1:c.3349G>A	ENSP00000512297.1:p.Glu1117Lys
ENST00000695971.1:c.3502G>A	ENSP00000512298.1:p.Glu1168Lys
ENST00000695972.1:c.*600G>A	ENSP00000512299.1:n.*600G>A
ENST00000695973.1:c.*1887G>A	ENSP00000512300.1:n.*1887G>A
ENST00000695974.1:c.3346G>A	ENSP00000512301.1:p.Glu1116Lys
ENST00000695975.1:c.*1650G>A	ENSP00000512302.1:n.*1650G>A
ENST00000695976.1:c.3334G>A	ENSP00000512303.1:p.Glu1112Lys
ENST00000695981.1:c.3523G>A	ENSP00000512306.1:p.Glu1175Lys
ENST00000695984.1:c.1531G>A	ENSP00000512309.1:p.Glu511Lys
ENST00000695986.1:c.*3174G>A	ENSP00000512311.1:n.*3174G>A
ENST00000695990.1:n.557G>A
ENST00000696026.1:c.*1805G>A	ENSP00000512335.1:n.*1805G>A
ENST00000696027.1:c.3517G>A	ENSP00000512336.1:p.Glu1173Lys
ENST00000696028.1:c.3451G>A	ENSP00000512337.1:p.Glu1151Lys
ENST00000696029.1:c.3517G>A	ENSP00000512338.1:p.Glu1173Lys
ENST00000696031.1:c.*3041G>A	ENSP00000512340.1:n.*3041G>A
ENST00000696032.1:c.3523G>A	ENSP00000512341.1:p.Glu1175Lys
ENST00000696033.1:c.1160-32657G>A	ENSP00000512342.1:n.1160-32657G>A
ENST00000367429.9:c.3523G>A MANE Select	ENSP00000356399.4:p.Glu1175Lys
ENST00000367429.8:c.3523G>A	ENSP00000356399.4:p.Glu1175Lys
ENST00000466229.5:n.6621G>A
NM_000186.3:c.3523G>A , LRG_47t1:c.3523G>A	NP_000177.2:p.Glu1175Lys
XR_001737134.2:n.3709G>A
NM_000186.4:c.3523G>A MANE Select	NP_000177.2:p.Glu1175Lys