Canonical Allele Identifier: CA343983080

Gene: CFH

Linked Data

• dbSNP Id: rs1264588783
• gnomAD v2: 1-196712612-A-G
• MyVariant Identifiers: chr1:g.196712612A>G (hg19) ; chr1:g.196743482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743482A>G , CM000663.2:g.196743482A>G	GRCh38
NC_000001.10:g.196712612A>G , CM000663.1:g.196712612A>G	GRCh37
NC_000001.9:g.194979235A>G	NCBI36
NG_007259.1:g.96472A>G , LRG_47:g.96472A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4192A>G
ENST00000695970.1:c.2990A>G	ENSP00000512297.1:p.Gln997Arg
ENST00000695971.1:c.3143A>G	ENSP00000512298.1:p.Gln1048Arg
ENST00000695972.1:c.*241A>G	ENSP00000512299.1:n.*241A>G
ENST00000695973.1:c.*1528A>G	ENSP00000512300.1:n.*1528A>G
ENST00000695974.1:c.2987A>G	ENSP00000512301.1:p.Gln996Arg
ENST00000695975.1:c.*1291A>G	ENSP00000512302.1:n.*1291A>G
ENST00000695976.1:c.2975A>G	ENSP00000512303.1:p.Gln992Arg
ENST00000695981.1:c.3164A>G	ENSP00000512306.1:p.Gln1055Arg
ENST00000695984.1:c.1172A>G	ENSP00000512309.1:p.Gln391Arg
ENST00000695986.1:c.*2815A>G	ENSP00000512311.1:n.*2815A>G
ENST00000696026.1:c.*1446A>G	ENSP00000512335.1:n.*1446A>G
ENST00000696027.1:c.3158A>G	ENSP00000512336.1:p.Gln1053Arg
ENST00000696028.1:c.3092A>G	ENSP00000512337.1:p.Gln1031Arg
ENST00000696029.1:c.3158A>G	ENSP00000512338.1:p.Gln1053Arg
ENST00000696031.1:c.*2682A>G	ENSP00000512340.1:n.*2682A>G
ENST00000696032.1:c.3164A>G	ENSP00000512341.1:p.Gln1055Arg
ENST00000696033.1:c.1160-36315A>G	ENSP00000512342.1:n.1160-36315A>G
ENST00000367429.9:c.3164A>G MANE Select	ENSP00000356399.4:p.Gln1055Arg
ENST00000367429.8:c.3164A>G	ENSP00000356399.4:p.Gln1055Arg
ENST00000466229.5:n.6262A>G
NM_000186.3:c.3164A>G , LRG_47t1:c.3164A>G	NP_000177.2:p.Gln1055Arg
XR_001737134.2:n.3350A>G
NM_000186.4:c.3164A>G MANE Select	NP_000177.2:p.Gln1055Arg