Canonical Allele Identifier: CA367400548

Gene: GCK

Linked Data

• ClinVar Variation Id: 447419
• ClinVar RCV Id: RCV000516510 ; RCV002285350 ; RCV002490882
• dbSNP Id: rs104894011
• gnomAD v4: 7-44147720-C-T
• MyVariant Identifiers: chr7:g.44187319C>T (hg19) ; chr7:g.44147720C>T (hg38)
• PubMed: PMID:16173921 ; PMID:17573900 ; PMID:18322640 ; PMID:18382660 ; PMID:23295287

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147720C>T , CM000669.2:g.44147720C>T	GRCh38
NC_000007.13:g.44187319C>T , CM000669.1:g.44187319C>T	GRCh37
NC_000007.12:g.44153844C>T	NCBI36
NG_008847.1:g.46704G>A
NG_008847.2:g.55451G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*791G>A	ENSP00000379142.4:n.*791G>A
ENST00000616242.5:c.793G>A	ENSP00000482149.2:p.Glu265Lys
ENST00000345378.7:c.796G>A	ENSP00000223366.2:p.Glu266Lys
ENST00000403799.8:c.793G>A MANE Select	ENSP00000384247.3:p.Glu265Lys
ENST00000671824.1:c.793G>A	ENSP00000500264.1:p.Glu265Lys
ENST00000673284.1:c.793G>A	ENSP00000499852.1:p.Glu265Lys
ENST00000345378.6:c.796G>A	ENSP00000223366.2:p.Glu266Lys
ENST00000395796.7:c.790G>A	ENSP00000379142.3:p.Glu264Lys
ENST00000403799.7:c.793G>A	ENSP00000384247.3:p.Glu265Lys
ENST00000437084.1:c.742G>A	ENSP00000402840.1:p.Glu248Lys
ENST00000616242.4:c.790G>A	ENSP00000482149.1:p.Glu264Lys
NM_000162.3:c.793G>A	NP_000153.1:p.Glu265Lys
NM_033507.1:c.796G>A	NP_277042.1:p.Glu266Lys
NM_033508.1:c.790G>A	NP_277043.1:p.Glu264Lys
XR_927223.1:n.54C>T
NM_000162.4:c.793G>A	NP_000153.1:p.Glu265Lys
NM_001354800.1:c.793G>A	NP_001341729.1:p.Glu265Lys
NM_033507.2:c.796G>A	NP_277042.1:p.Glu266Lys
NM_033508.2:c.790G>A	NP_277043.1:p.Glu264Lys
XR_927223.2:n.54C>T
NM_000162.5:c.793G>A MANE Select	NP_000153.1:p.Glu265Lys
NM_033507.3:c.796G>A	NP_277042.1:p.Glu266Lys
NM_033508.3:c.790G>A	NP_277043.1:p.Glu264Lys