Canonical Allele Identifier: CA343988070

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716363C>G (hg19) ; chr1:g.196747233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747233C>G , CM000663.2:g.196747233C>G	GRCh38
NC_000001.10:g.196716363C>G , CM000663.1:g.196716363C>G	GRCh37
NC_000001.9:g.194982986C>G	NCBI36
NG_007259.1:g.100223C>G , LRG_47:g.100223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4644C>G
ENST00000695970.1:c.3442C>G	ENSP00000512297.1:p.Arg1148Gly
ENST00000695971.1:c.3595C>G	ENSP00000512298.1:p.Arg1199Gly
ENST00000695972.1:c.*693C>G	ENSP00000512299.1:n.*693C>G
ENST00000695973.1:c.*1980C>G	ENSP00000512300.1:n.*1980C>G
ENST00000695974.1:c.3439C>G	ENSP00000512301.1:p.Arg1147Gly
ENST00000695975.1:c.*1743C>G	ENSP00000512302.1:n.*1743C>G
ENST00000695976.1:c.3427C>G	ENSP00000512303.1:p.Arg1143Gly
ENST00000695981.1:c.3580+36C>G	ENSP00000512306.1:n.3580+36C>G
ENST00000695984.1:c.1624C>G	ENSP00000512309.1:p.Arg542Gly
ENST00000695986.1:c.*3267C>G	ENSP00000512311.1:n.*3267C>G
ENST00000695990.1:n.650C>G
ENST00000696026.1:c.*1898C>G	ENSP00000512335.1:n.*1898C>G
ENST00000696027.1:c.3610C>G	ENSP00000512336.1:p.Arg1204Gly
ENST00000696028.1:c.3544C>G	ENSP00000512337.1:p.Arg1182Gly
ENST00000696029.1:c.3610C>G	ENSP00000512338.1:p.Arg1204Gly
ENST00000696031.1:c.*3134C>G	ENSP00000512340.1:n.*3134C>G
ENST00000696032.1:c.3580+36C>G	ENSP00000512341.1:n.3580+36C>G
ENST00000696033.1:c.1160-32564C>G	ENSP00000512342.1:n.1160-32564C>G
ENST00000367429.9:c.3616C>G MANE Select	ENSP00000356399.4:p.Arg1206Gly
ENST00000367429.8:c.3616C>G	ENSP00000356399.4:p.Arg1206Gly
ENST00000466229.5:n.6714C>G
NM_000186.3:c.3616C>G , LRG_47t1:c.3616C>G	NP_000177.2:p.Arg1206Gly
XR_001737134.2:n.3802C>G
NM_000186.4:c.3616C>G MANE Select	NP_000177.2:p.Arg1206Gly