Canonical Allele Identifier: CA343988072

Gene: CFH

Linked Data

• ClinVar Variation Id: 1342904
• ClinVar RCV Id: RCV001842261
• dbSNP Id: rs1573087364
• gnomAD v3: 1-196747233-C-T
• gnomAD v4: 1-196747233-C-T
• COSMIC: COSM3480828
• MyVariant Identifiers: chr1:g.196716363C>T (hg19) ; chr1:g.196747233C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4644C>T
ENST00000695970.1:c.3442C>T	ENSP00000512297.1:p.Arg1148Cys
ENST00000695971.1:c.3595C>T	ENSP00000512298.1:p.Arg1199Cys
ENST00000695972.1:c.*693C>T	ENSP00000512299.1:n.*693C>T
ENST00000695973.1:c.*1980C>T	ENSP00000512300.1:n.*1980C>T
ENST00000695974.1:c.3439C>T	ENSP00000512301.1:p.Arg1147Cys
ENST00000695975.1:c.*1743C>T	ENSP00000512302.1:n.*1743C>T
ENST00000695976.1:c.3427C>T	ENSP00000512303.1:p.Arg1143Cys
ENST00000695981.1:c.3580+36C>T	ENSP00000512306.1:n.3580+36C>T
ENST00000695984.1:c.1624C>T	ENSP00000512309.1:p.Arg542Cys
ENST00000695986.1:c.*3267C>T	ENSP00000512311.1:n.*3267C>T
ENST00000695990.1:n.650C>T
ENST00000696026.1:c.*1898C>T	ENSP00000512335.1:n.*1898C>T
ENST00000696027.1:c.3610C>T	ENSP00000512336.1:p.Arg1204Cys
ENST00000696028.1:c.3544C>T	ENSP00000512337.1:p.Arg1182Cys
ENST00000696029.1:c.3610C>T	ENSP00000512338.1:p.Arg1204Cys
ENST00000696031.1:c.*3134C>T	ENSP00000512340.1:n.*3134C>T
ENST00000696032.1:c.3580+36C>T	ENSP00000512341.1:n.3580+36C>T
ENST00000696033.1:c.1160-32564C>T	ENSP00000512342.1:n.1160-32564C>T
ENST00000367429.9:c.3616C>T MANE Select	ENSP00000356399.4:p.Arg1206Cys
ENST00000367429.8:c.3616C>T	ENSP00000356399.4:p.Arg1206Cys
ENST00000466229.5:n.6714C>T
NM_000186.3:c.3616C>T , LRG_47t1:c.3616C>T	NP_000177.2:p.Arg1206Cys
XR_001737134.2:n.3802C>T
NM_000186.4:c.3616C>T MANE Select	NP_000177.2:p.Arg1206Cys