Canonical Allele Identifier: CA343983360

Gene: CFH

Linked Data

• ClinVar Variation Id: 1693689
• ClinVar RCV Id: RCV002261558
• dbSNP Id: rs2149103730
• MyVariant Identifiers: chr1:g.196684822A>G (hg19) ; chr1:g.196715692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715692A>G , CM000663.2:g.196715692A>G	GRCh38
NC_000001.10:g.196684822A>G , CM000663.1:g.196684822A>G	GRCh37
NC_000001.9:g.194951445A>G	NCBI36
NG_007259.1:g.68682A>G , LRG_47:g.68682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1885A>G
ENST00000695969.1:c.1619A>G	ENSP00000512296.1:p.Tyr540Cys
ENST00000695970.1:c.1619A>G	ENSP00000512297.1:p.Tyr540Cys
ENST00000695971.1:c.1598A>G	ENSP00000512298.1:p.Tyr533Cys
ENST00000695972.1:c.1619A>G	ENSP00000512299.1:p.Tyr540Cys
ENST00000695973.1:c.1619A>G	ENSP00000512300.1:p.Tyr540Cys
ENST00000695974.1:c.1619A>G	ENSP00000512301.1:p.Tyr540Cys
ENST00000695975.1:c.1619A>G	ENSP00000512302.1:p.Tyr540Cys
ENST00000695976.1:c.1430A>G	ENSP00000512303.1:p.Tyr477Cys
ENST00000695981.1:c.1619A>G	ENSP00000512306.1:p.Tyr540Cys
ENST00000695983.1:c.1619A>G	ENSP00000512308.1:p.Tyr540Cys
ENST00000695984.1:c.245-12654A>G	ENSP00000512309.1:n.245-12654A>G
ENST00000695986.1:c.*1270A>G	ENSP00000512311.1:n.*1270A>G
ENST00000696024.1:n.1703A>G
ENST00000696025.1:n.1703A>G
ENST00000696026.1:c.1619A>G	ENSP00000512335.1:p.Tyr540Cys
ENST00000696027.1:c.1619A>G	ENSP00000512336.1:p.Tyr540Cys
ENST00000696028.1:c.1619A>G	ENSP00000512337.1:p.Tyr540Cys
ENST00000696029.1:c.1619A>G	ENSP00000512338.1:p.Tyr540Cys
ENST00000696031.1:c.*1137A>G	ENSP00000512340.1:n.*1137A>G
ENST00000696032.1:c.1619A>G	ENSP00000512341.1:p.Tyr540Cys
ENST00000696033.1:c.1159+26078A>G	ENSP00000512342.1:n.1159+26078A>G
ENST00000367429.9:c.1619A>G MANE Select	ENSP00000356399.4:p.Tyr540Cys
ENST00000367429.8:c.1619A>G	ENSP00000356399.4:p.Tyr540Cys
ENST00000466229.5:n.3635A>G
NM_000186.3:c.1619A>G , LRG_47t1:c.1619A>G	NP_000177.2:p.Tyr540Cys
XR_001737134.2:n.1704A>G
NM_000186.4:c.1619A>G MANE Select	NP_000177.2:p.Tyr540Cys