Canonical Allele Identifier: CA343983544

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712666T>G (hg19) ; chr1:g.196743536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743536T>G , CM000663.2:g.196743536T>G	GRCh38
NC_000001.10:g.196712666T>G , CM000663.1:g.196712666T>G	GRCh37
NC_000001.9:g.194979289T>G	NCBI36
NG_007259.1:g.96526T>G , LRG_47:g.96526T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4246T>G
ENST00000695970.1:c.3044T>G	ENSP00000512297.1:p.Val1015Gly
ENST00000695971.1:c.3197T>G	ENSP00000512298.1:p.Val1066Gly
ENST00000695972.1:c.*295T>G	ENSP00000512299.1:n.*295T>G
ENST00000695973.1:c.*1582T>G	ENSP00000512300.1:n.*1582T>G
ENST00000695974.1:c.3041T>G	ENSP00000512301.1:p.Val1014Gly
ENST00000695975.1:c.*1345T>G	ENSP00000512302.1:n.*1345T>G
ENST00000695976.1:c.3029T>G	ENSP00000512303.1:p.Val1010Gly
ENST00000695981.1:c.3218T>G	ENSP00000512306.1:p.Val1073Gly
ENST00000695984.1:c.1226T>G	ENSP00000512309.1:p.Val409Gly
ENST00000695986.1:c.*2869T>G	ENSP00000512311.1:n.*2869T>G
ENST00000696026.1:c.*1500T>G	ENSP00000512335.1:n.*1500T>G
ENST00000696027.1:c.3212T>G	ENSP00000512336.1:p.Val1071Gly
ENST00000696028.1:c.3146T>G	ENSP00000512337.1:p.Val1049Gly
ENST00000696029.1:c.3212T>G	ENSP00000512338.1:p.Val1071Gly
ENST00000696031.1:c.*2736T>G	ENSP00000512340.1:n.*2736T>G
ENST00000696032.1:c.3218T>G	ENSP00000512341.1:p.Val1073Gly
ENST00000696033.1:c.1160-36261T>G	ENSP00000512342.1:n.1160-36261T>G
ENST00000367429.9:c.3218T>G MANE Select	ENSP00000356399.4:p.Val1073Gly
ENST00000367429.8:c.3218T>G	ENSP00000356399.4:p.Val1073Gly
ENST00000466229.5:n.6316T>G
NM_000186.3:c.3218T>G , LRG_47t1:c.3218T>G	NP_000177.2:p.Val1073Gly
XR_001737134.2:n.3404T>G
NM_000186.4:c.3218T>G MANE Select	NP_000177.2:p.Val1073Gly