Canonical Allele Identifier: CA343983065

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712611C>G (hg19) ; chr1:g.196743481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743481C>G , CM000663.2:g.196743481C>G	GRCh38
NC_000001.10:g.196712611C>G , CM000663.1:g.196712611C>G	GRCh37
NC_000001.9:g.194979234C>G	NCBI36
NG_007259.1:g.96471C>G , LRG_47:g.96471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4191C>G
ENST00000695970.1:c.2989C>G	ENSP00000512297.1:p.Gln997Glu
ENST00000695971.1:c.3142C>G	ENSP00000512298.1:p.Gln1048Glu
ENST00000695972.1:c.*240C>G	ENSP00000512299.1:n.*240C>G
ENST00000695973.1:c.*1527C>G	ENSP00000512300.1:n.*1527C>G
ENST00000695974.1:c.2986C>G	ENSP00000512301.1:p.Gln996Glu
ENST00000695975.1:c.*1290C>G	ENSP00000512302.1:n.*1290C>G
ENST00000695976.1:c.2974C>G	ENSP00000512303.1:p.Gln992Glu
ENST00000695981.1:c.3163C>G	ENSP00000512306.1:p.Gln1055Glu
ENST00000695984.1:c.1171C>G	ENSP00000512309.1:p.Gln391Glu
ENST00000695986.1:c.*2814C>G	ENSP00000512311.1:n.*2814C>G
ENST00000696026.1:c.*1445C>G	ENSP00000512335.1:n.*1445C>G
ENST00000696027.1:c.3157C>G	ENSP00000512336.1:p.Gln1053Glu
ENST00000696028.1:c.3091C>G	ENSP00000512337.1:p.Gln1031Glu
ENST00000696029.1:c.3157C>G	ENSP00000512338.1:p.Gln1053Glu
ENST00000696031.1:c.*2681C>G	ENSP00000512340.1:n.*2681C>G
ENST00000696032.1:c.3163C>G	ENSP00000512341.1:p.Gln1055Glu
ENST00000696033.1:c.1160-36316C>G	ENSP00000512342.1:n.1160-36316C>G
ENST00000367429.9:c.3163C>G MANE Select	ENSP00000356399.4:p.Gln1055Glu
ENST00000367429.8:c.3163C>G	ENSP00000356399.4:p.Gln1055Glu
ENST00000466229.5:n.6261C>G
NM_000186.3:c.3163C>G , LRG_47t1:c.3163C>G	NP_000177.2:p.Gln1055Glu
XR_001737134.2:n.3349C>G
NM_000186.4:c.3163C>G MANE Select	NP_000177.2:p.Gln1055Glu