Canonical Allele Identifier: CA375943023

Gene: PFKFB3

Linked Data

• ClinVar Variation Id: 2283362
• ClinVar RCV Id: RCV004132281
• MyVariant Identifiers: chr10:g.6266133A>G (hg19) ; chr10:g.6224170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6224170A>G , CM000672.2:g.6224170A>G	GRCh38
NC_000010.10:g.6266133A>G , CM000672.1:g.6266133A>G	GRCh37
NC_000010.9:g.6306139A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360521.7:c.1298A>G	ENSP00000353712.2:p.Tyr433Cys
ENST00000379775.9:c.1298A>G MANE Select	ENSP00000369100.4:p.Tyr433Cys
ENST00000536985.6:c.1340A>G	ENSP00000443319.2:p.Tyr447Cys
ENST00000640683.1:c.1298A>G	ENSP00000492001.1:p.Tyr433Cys
ENST00000317350.8:c.1298A>G	ENSP00000369105.3:p.Tyr433Cys
ENST00000360521.6:c.1298A>G	ENSP00000353712.2:p.Tyr433Cys
ENST00000379775.8:c.1298A>G	ENSP00000369100.4:p.Tyr433Cys
ENST00000379785.5:c.1298A>G	ENSP00000369111.1:p.Tyr433Cys
ENST00000379789.8:c.1238A>G	ENSP00000369115.4:p.Tyr413Cys
ENST00000414237.5:c.5A>G	ENSP00000416677.1:p.Tyr2Cys
ENST00000441697.1:c.5A>G	ENSP00000404995.1:p.Tyr2Cys
ENST00000450232.1:c.339A>G
ENST00000461744.5:c.1298A>G	ENSP00000433771.1:p.Tyr433Cys
ENST00000467491.5:c.1298A>G	ENSP00000434628.1:p.Tyr433Cys
ENST00000475881.5:c.5A>G	ENSP00000434342.1:p.Tyr2Cys
ENST00000477914.5:c.1298A>G	ENSP00000432356.1:p.Tyr433Cys
ENST00000487989.1:n.362A>G
ENST00000490474.5:c.1298A>G	ENSP00000436885.1:p.Tyr433Cys
ENST00000536985.5:c.1340A>G	ENSP00000443319.2:p.Tyr447Cys
ENST00000625260.2:c.1298A>G	ENSP00000486311.1:p.Tyr433Cys
ENST00000626882.2:c.1298A>G	ENSP00000487277.1:p.Tyr433Cys
NM_001145443.1:c.1238A>G	NP_001138915.1:p.Tyr413Cys
NM_001145443.2:c.1238A>G	NP_001138915.1:p.Tyr413Cys
NM_001282630.1:c.1340A>G	NP_001269559.1:p.Tyr447Cys
NM_001282630.2:c.1340A>G	NP_001269559.1:p.Tyr447Cys
NM_001314063.1:c.1298A>G	NP_001300992.1:p.Tyr433Cys
NM_004566.3:c.1298A>G	NP_004557.1:p.Tyr433Cys
XM_005252464.1:c.1298A>G	XP_005252521.1:p.Tyr433Cys
XM_011519492.1:c.1193A>G	XP_011517794.1:p.Tyr398Cys
XM_011519493.1:c.1193A>G	XP_011517795.1:p.Tyr398Cys
NM_001323016.1:c.1238A>G	NP_001309945.1:p.Tyr413Cys
NM_001323017.1:c.749A>G	NP_001309946.1:p.Tyr250Cys
NM_001363545.1:c.1298A>G	NP_001350474.1:p.Tyr433Cys
NR_136554.1:n.1151+150A>G
XM_005252464.2:c.1298A>G	XP_005252521.1:p.Tyr433Cys
XM_011519493.2:c.1193A>G	XP_011517795.1:p.Tyr398Cys
XM_017016326.2:c.1241A>G	XP_016871815.1:p.Tyr414Cys
XM_017016327.2:c.1238A>G	XP_016871816.1:p.Tyr413Cys
XM_017016328.2:c.1193A>G	XP_016871817.1:p.Tyr398Cys
XM_017016329.2:c.1241A>G	XP_016871818.1:p.Tyr414Cys
XM_024448037.1:c.749A>G	XP_024303805.1:p.Tyr250Cys
NM_004566.4:c.1298A>G MANE Select	NP_004557.1:p.Tyr433Cys
NM_001145443.3:c.1238A>G	NP_001138915.1:p.Tyr413Cys
NM_001314063.2:c.1298A>G	NP_001300992.1:p.Tyr433Cys
NM_001323016.2:c.1238A>G	NP_001309945.1:p.Tyr413Cys
NM_001323017.2:c.749A>G	NP_001309946.1:p.Tyr250Cys
NM_001363545.2:c.1298A>G	NP_001350474.1:p.Tyr433Cys
NR_136554.2:n.1108+150A>G
NM_001282630.3:c.1340A>G	NP_001269559.1:p.Tyr447Cys