Canonical Allele Identifier: CA343983059

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4191C>A
ENST00000695970.1:c.2989C>A	ENSP00000512297.1:p.Gln997Lys
ENST00000695971.1:c.3142C>A	ENSP00000512298.1:p.Gln1048Lys
ENST00000695972.1:c.*240C>A	ENSP00000512299.1:n.*240C>A
ENST00000695973.1:c.*1527C>A	ENSP00000512300.1:n.*1527C>A
ENST00000695974.1:c.2986C>A	ENSP00000512301.1:p.Gln996Lys
ENST00000695975.1:c.*1290C>A	ENSP00000512302.1:n.*1290C>A
ENST00000695976.1:c.2974C>A	ENSP00000512303.1:p.Gln992Lys
ENST00000695981.1:c.3163C>A	ENSP00000512306.1:p.Gln1055Lys
ENST00000695984.1:c.1171C>A	ENSP00000512309.1:p.Gln391Lys
ENST00000695986.1:c.*2814C>A	ENSP00000512311.1:n.*2814C>A
ENST00000696026.1:c.*1445C>A	ENSP00000512335.1:n.*1445C>A
ENST00000696027.1:c.3157C>A	ENSP00000512336.1:p.Gln1053Lys
ENST00000696028.1:c.3091C>A	ENSP00000512337.1:p.Gln1031Lys
ENST00000696029.1:c.3157C>A	ENSP00000512338.1:p.Gln1053Lys
ENST00000696031.1:c.*2681C>A	ENSP00000512340.1:n.*2681C>A
ENST00000696032.1:c.3163C>A	ENSP00000512341.1:p.Gln1055Lys
ENST00000696033.1:c.1160-36316C>A	ENSP00000512342.1:n.1160-36316C>A
ENST00000367429.9:c.3163C>A MANE Select	ENSP00000356399.4:p.Gln1055Lys
ENST00000367429.8:c.3163C>A	ENSP00000356399.4:p.Gln1055Lys
ENST00000466229.5:n.6261C>A
NM_000186.3:c.3163C>A , LRG_47t1:c.3163C>A	NP_000177.2:p.Gln1055Lys
XR_001737134.2:n.3349C>A
NM_000186.4:c.3163C>A MANE Select	NP_000177.2:p.Gln1055Lys