Canonical Allele Identifier: CA343977227

Gene: CFH

Linked Data

• dbSNP Id: rs1165196106
• gnomAD v3: 1-196677596-A-G
• gnomAD v4: 1-196677596-A-G
• MyVariant Identifiers: chr1:g.196646726A>G (hg19) ; chr1:g.196677596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196677596A>G , CM000663.2:g.196677596A>G	GRCh38
NC_000001.10:g.196646726A>G , CM000663.1:g.196646726A>G	GRCh37
NC_000001.9:g.194913349A>G	NCBI36
NG_007259.1:g.30586A>G , LRG_47:g.30586A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.427+1531A>G	ENSP00000352658.2:n.427+1531A>G
ENST00000470918.2:n.814A>G
ENST00000695968.1:c.365A>G	ENSP00000512295.1:p.Lys122Arg
ENST00000695969.1:c.548A>G	ENSP00000512296.1:p.Lys183Arg
ENST00000695970.1:c.548A>G	ENSP00000512297.1:p.Lys183Arg
ENST00000695971.1:c.548A>G	ENSP00000512298.1:p.Lys183Arg
ENST00000695972.1:c.548A>G	ENSP00000512299.1:p.Lys183Arg
ENST00000695973.1:c.548A>G	ENSP00000512300.1:p.Lys183Arg
ENST00000695974.1:c.548A>G	ENSP00000512301.1:p.Lys183Arg
ENST00000695975.1:c.548A>G	ENSP00000512302.1:p.Lys183Arg
ENST00000695976.1:c.359A>G	ENSP00000512303.1:p.Lys120Arg
ENST00000695978.1:c.548A>G	ENSP00000512304.1:p.Lys183Arg
ENST00000695979.1:c.548A>G	ENSP00000512305.1:p.Lys183Arg
ENST00000695980.1:n.668A>G
ENST00000695981.1:c.548A>G	ENSP00000512306.1:p.Lys183Arg
ENST00000695983.1:c.548A>G	ENSP00000512308.1:p.Lys183Arg
ENST00000695984.1:c.244+4433A>G	ENSP00000512309.1:n.244+4433A>G
ENST00000695986.1:c.*199A>G	ENSP00000512311.1:n.*199A>G
ENST00000695987.1:c.359A>G	ENSP00000512312.1:p.Lys120Arg
ENST00000696018.1:n.632A>G
ENST00000696019.1:n.632A>G
ENST00000696020.1:n.632A>G
ENST00000696021.1:n.632A>G
ENST00000696022.1:n.632A>G
ENST00000696023.1:c.548A>G	ENSP00000512334.1:p.Lys183Arg
ENST00000696024.1:n.632A>G
ENST00000696025.1:n.632A>G
ENST00000696026.1:c.548A>G	ENSP00000512335.1:p.Lys183Arg
ENST00000696027.1:c.548A>G	ENSP00000512336.1:p.Lys183Arg
ENST00000696028.1:c.548A>G	ENSP00000512337.1:p.Lys183Arg
ENST00000696029.1:c.548A>G	ENSP00000512338.1:p.Lys183Arg
ENST00000696030.1:c.548A>G	ENSP00000512339.1:p.Lys183Arg
ENST00000696031.1:c.548A>G	ENSP00000512340.1:p.Lys183Arg
ENST00000696032.1:c.548A>G	ENSP00000512341.1:p.Lys183Arg
ENST00000696033.1:c.548A>G	ENSP00000512342.1:p.Lys183Arg
ENST00000367429.9:c.548A>G MANE Select	ENSP00000356399.4:p.Lys183Arg
ENST00000359637.2:c.427+1531A>G	ENSP00000352658.2:n.427+1531A>G
ENST00000367429.8:c.548A>G	ENSP00000356399.4:p.Lys183Arg
ENST00000466229.5:n.609A>G
ENST00000630130.2:c.548A>G	ENSP00000487250.1:p.Lys183Arg
NM_000186.3:c.548A>G , LRG_47t1:c.548A>G	NP_000177.2:p.Lys183Arg
NM_001014975.2:c.548A>G	NP_001014975.1:p.Lys183Arg
XM_017001108.2:c.548A>G	XP_016856597.1:p.Lys183Arg
XR_001737134.2:n.633A>G
NM_000186.4:c.548A>G MANE Select	NP_000177.2:p.Lys183Arg
NM_001014975.3:c.548A>G	NP_001014975.1:p.Lys183Arg