Canonical Allele Identifier: CA367399081
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 972983
dbSNP Id: rs2096271812
gnomAD v4: 7-44145665-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145665G>A , CM000669.2:g.44145665G>A GRCh38
NC_000007.13:g.44185264G>A , CM000669.1:g.44185264G>A GRCh37
NC_000007.12:g.44151789G>A NCBI36
NG_008847.1:g.48759C>T
NG_008847.2:g.57506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1083C>T ENSP00000379142.4:n.*1083C>T
ENST00000616242.5:c.*205C>T ENSP00000482149.2:n.*205C>T
ENST00000683378.1:n.311C>T
ENST00000336642.9:c.119C>T ENSP00000338009.5:p.Thr40Ile
ENST00000345378.7:c.1088C>T ENSP00000223366.2:p.Thr363Ile
ENST00000403799.8:c.1085C>T MANE Select ENSP00000384247.3:p.Thr362Ile
ENST00000671824.1:c.1148C>T ENSP00000500264.1:p.Thr383Ile
ENST00000672743.1:n.97C>T
ENST00000673284.1:c.1085C>T ENSP00000499852.1:p.Thr362Ile
ENST00000336642.8:c.137C>T ENSP00000338009.4:p.Thr46Ile
ENST00000345378.6:c.1088C>T ENSP00000223366.2:p.Thr363Ile
ENST00000395796.7:c.1082C>T ENSP00000379142.3:p.Thr361Ile
ENST00000403799.7:c.1085C>T ENSP00000384247.3:p.Thr362Ile
ENST00000437084.1:c.1034C>T ENSP00000402840.1:p.Thr345Ile
ENST00000459642.1:n.465C>T
ENST00000473353.1:n.383C>T
ENST00000616242.4:c.1082C>T ENSP00000482149.1:p.Thr361Ile
NM_000162.3:c.1085C>T NP_000153.1:p.Thr362Ile
NM_033507.1:c.1088C>T NP_277042.1:p.Thr363Ile
NM_033508.1:c.1082C>T NP_277043.1:p.Thr361Ile
NM_000162.4:c.1085C>T NP_000153.1:p.Thr362Ile
NM_001354800.1:c.1085C>T NP_001341729.1:p.Thr362Ile
NM_001354801.1:c.74C>T NP_001341730.1:p.Thr25Ile
NM_001354802.1:c.-56C>T NP_001341731.1:n.-56C>T
NM_001354803.1:c.119C>T NP_001341732.1:p.Thr40Ile
NM_033507.2:c.1088C>T NP_277042.1:p.Thr363Ile
NM_033508.2:c.1082C>T NP_277043.1:p.Thr361Ile
XM_024446707.1:c.-56C>T XP_024302475.1:n.-56C>T
NM_000162.5:c.1085C>T MANE Select NP_000153.1:p.Thr362Ile
NM_033507.3:c.1088C>T NP_277042.1:p.Thr363Ile
NM_033508.3:c.1082C>T NP_277043.1:p.Thr361Ile
NM_001354803.2:c.119C>T NP_001341732.1:p.Thr40Ile