Canonical Allele Identifier: CA343983548

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712668C>G (hg19) ; chr1:g.196743538C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743538C>G , CM000663.2:g.196743538C>G	GRCh38
NC_000001.10:g.196712668C>G , CM000663.1:g.196712668C>G	GRCh37
NC_000001.9:g.194979291C>G	NCBI36
NG_007259.1:g.96528C>G , LRG_47:g.96528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4248C>G
ENST00000695970.1:c.3046C>G	ENSP00000512297.1:p.Arg1016Gly
ENST00000695971.1:c.3199C>G	ENSP00000512298.1:p.Arg1067Gly
ENST00000695972.1:c.*297C>G	ENSP00000512299.1:n.*297C>G
ENST00000695973.1:c.*1584C>G	ENSP00000512300.1:n.*1584C>G
ENST00000695974.1:c.3043C>G	ENSP00000512301.1:p.Arg1015Gly
ENST00000695975.1:c.*1347C>G	ENSP00000512302.1:n.*1347C>G
ENST00000695976.1:c.3031C>G	ENSP00000512303.1:p.Arg1011Gly
ENST00000695981.1:c.3220C>G	ENSP00000512306.1:p.Arg1074Gly
ENST00000695984.1:c.1228C>G	ENSP00000512309.1:p.Arg410Gly
ENST00000695986.1:c.*2871C>G	ENSP00000512311.1:n.*2871C>G
ENST00000696026.1:c.*1502C>G	ENSP00000512335.1:n.*1502C>G
ENST00000696027.1:c.3214C>G	ENSP00000512336.1:p.Arg1072Gly
ENST00000696028.1:c.3148C>G	ENSP00000512337.1:p.Arg1050Gly
ENST00000696029.1:c.3214C>G	ENSP00000512338.1:p.Arg1072Gly
ENST00000696031.1:c.*2738C>G	ENSP00000512340.1:n.*2738C>G
ENST00000696032.1:c.3220C>G	ENSP00000512341.1:p.Arg1074Gly
ENST00000696033.1:c.1160-36259C>G	ENSP00000512342.1:n.1160-36259C>G
ENST00000367429.9:c.3220C>G MANE Select	ENSP00000356399.4:p.Arg1074Gly
ENST00000367429.8:c.3220C>G	ENSP00000356399.4:p.Arg1074Gly
ENST00000466229.5:n.6318C>G
NM_000186.3:c.3220C>G , LRG_47t1:c.3220C>G	NP_000177.2:p.Arg1074Gly
XR_001737134.2:n.3406C>G
NM_000186.4:c.3220C>G MANE Select	NP_000177.2:p.Arg1074Gly