Canonical Allele Identifier: CA126211

Gene: GCK

Linked Data

• ClinVar Variation Id: 16135
• ClinVar RCV Id: RCV003325940 ; RCV003445078
• dbSNP Id: rs104894008
• ExAC: 7:44187331 C / T
• gnomAD v2: 7-44187331-C-T
• gnomAD v4: 7-44147732-C-T
• MyVariant Identifiers: chr7:g.44187331C>T (hg19) ; chr7:g.44147732C>T (hg38)
• ERepo: CA126211/MONDO:0015967/086
• PubMed: PMID:1464666 ; PMID:1502186 ; PMID:8446612 ; PMID:9049484 ; PMID:10525657 ; PMID:10694920 ; PMID:17573900 ; PMID:19903754 ; PMID:21518409 ; PMID:21521320 ; PMID:22611063 ; PMID:22761713 ; PMID:25015100 ; PMID:27167055

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147732C>T , CM000669.2:g.44147732C>T	GRCh38
NC_000007.13:g.44187331C>T , CM000669.1:g.44187331C>T	GRCh37
NC_000007.12:g.44153856C>T	NCBI36
NG_008847.1:g.46692G>A
NG_008847.2:g.55439G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*779G>A	ENSP00000379142.4:n.*779G>A
ENST00000616242.5:c.781G>A	ENSP00000482149.2:p.Gly261Arg
ENST00000345378.7:c.784G>A	ENSP00000223366.2:p.Gly262Arg
ENST00000403799.8:c.781G>A MANE Select	ENSP00000384247.3:p.Gly261Arg
ENST00000671824.1:c.781G>A	ENSP00000500264.1:p.Gly261Arg
ENST00000673284.1:c.781G>A	ENSP00000499852.1:p.Gly261Arg
ENST00000345378.6:c.784G>A	ENSP00000223366.2:p.Gly262Arg
ENST00000395796.7:c.778G>A	ENSP00000379142.3:p.Gly260Arg
ENST00000403799.7:c.781G>A	ENSP00000384247.3:p.Gly261Arg
ENST00000437084.1:c.730G>A	ENSP00000402840.1:p.Gly244Arg
ENST00000616242.4:c.778G>A	ENSP00000482149.1:p.Gly260Arg
NM_000162.3:c.781G>A	NP_000153.1:p.Gly261Arg
NM_033507.1:c.784G>A	NP_277042.1:p.Gly262Arg
NM_033508.1:c.778G>A	NP_277043.1:p.Gly260Arg
XR_927223.1:n.66C>T
NM_000162.4:c.781G>A	NP_000153.1:p.Gly261Arg
NM_001354800.1:c.781G>A	NP_001341729.1:p.Gly261Arg
NM_033507.2:c.784G>A	NP_277042.1:p.Gly262Arg
NM_033508.2:c.778G>A	NP_277043.1:p.Gly260Arg
XR_927223.2:n.66C>T
NM_000162.5:c.781G>A MANE Select	NP_000153.1:p.Gly261Arg
NM_033507.3:c.784G>A	NP_277042.1:p.Gly262Arg
NM_033508.3:c.778G>A	NP_277043.1:p.Gly260Arg