Canonical Allele Identifier: CA343988067

Gene: CFH

Linked Data

• dbSNP Id: rs1573087364
• MyVariant Identifiers: chr1:g.196716363C>A (hg19) ; chr1:g.196747233C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4644C>A
ENST00000695970.1:c.3442C>A	ENSP00000512297.1:p.Arg1148Ser
ENST00000695971.1:c.3595C>A	ENSP00000512298.1:p.Arg1199Ser
ENST00000695972.1:c.*693C>A	ENSP00000512299.1:n.*693C>A
ENST00000695973.1:c.*1980C>A	ENSP00000512300.1:n.*1980C>A
ENST00000695974.1:c.3439C>A	ENSP00000512301.1:p.Arg1147Ser
ENST00000695975.1:c.*1743C>A	ENSP00000512302.1:n.*1743C>A
ENST00000695976.1:c.3427C>A	ENSP00000512303.1:p.Arg1143Ser
ENST00000695981.1:c.3580+36C>A	ENSP00000512306.1:n.3580+36C>A
ENST00000695984.1:c.1624C>A	ENSP00000512309.1:p.Arg542Ser
ENST00000695986.1:c.*3267C>A	ENSP00000512311.1:n.*3267C>A
ENST00000695990.1:n.650C>A
ENST00000696026.1:c.*1898C>A	ENSP00000512335.1:n.*1898C>A
ENST00000696027.1:c.3610C>A	ENSP00000512336.1:p.Arg1204Ser
ENST00000696028.1:c.3544C>A	ENSP00000512337.1:p.Arg1182Ser
ENST00000696029.1:c.3610C>A	ENSP00000512338.1:p.Arg1204Ser
ENST00000696031.1:c.*3134C>A	ENSP00000512340.1:n.*3134C>A
ENST00000696032.1:c.3580+36C>A	ENSP00000512341.1:n.3580+36C>A
ENST00000696033.1:c.1160-32564C>A	ENSP00000512342.1:n.1160-32564C>A
ENST00000367429.9:c.3616C>A MANE Select	ENSP00000356399.4:p.Arg1206Ser
ENST00000367429.8:c.3616C>A	ENSP00000356399.4:p.Arg1206Ser
ENST00000466229.5:n.6714C>A
NM_000186.3:c.3616C>A , LRG_47t1:c.3616C>A	NP_000177.2:p.Arg1206Ser
XR_001737134.2:n.3802C>A
NM_000186.4:c.3616C>A MANE Select	NP_000177.2:p.Arg1206Ser