Canonical Allele Identifier: CA157911892
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1800884
dbSNP Id: rs1010302320
gnomAD v2: 7-44184868-C-A
gnomAD v3: 7-44145269-C-A
gnomAD v4: 7-44145269-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145269C>A , CM000669.2:g.44145269C>A GRCh38
NC_000007.13:g.44184868C>A , CM000669.1:g.44184868C>A GRCh37
NC_000007.12:g.44151393C>A NCBI36
NG_008847.1:g.49155G>T
NG_008847.2:g.57902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1263G>T ENSP00000379142.4:n.*1263G>T
ENST00000616242.5:c.*385G>T ENSP00000482149.2:n.*385G>T
ENST00000683378.1:n.491G>T
ENST00000336642.9:c.299G>T ENSP00000338009.5:p.Arg100Leu
ENST00000345378.7:c.1268G>T ENSP00000223366.2:p.Arg423Leu
ENST00000403799.8:c.1265G>T MANE Select ENSP00000384247.3:p.Arg422Leu
ENST00000671824.1:c.1328G>T ENSP00000500264.1:p.Arg443Leu
ENST00000672743.1:n.277G>T
ENST00000673284.1:c.1265G>T ENSP00000499852.1:p.Arg422Leu
ENST00000336642.8:c.317G>T ENSP00000338009.4:p.Arg106Leu
ENST00000345378.6:c.1268G>T ENSP00000223366.2:p.Arg423Leu
ENST00000395796.7:c.1262G>T ENSP00000379142.3:p.Arg421Leu
ENST00000403799.7:c.1265G>T ENSP00000384247.3:p.Arg422Leu
ENST00000437084.1:c.1214G>T ENSP00000402840.1:p.Arg405Leu
ENST00000459642.1:n.645G>T
ENST00000616242.4:c.1262G>T ENSP00000482149.1:p.Arg421Leu
NM_000162.3:c.1265G>T NP_000153.1:p.Arg422Leu
NM_033507.1:c.1268G>T NP_277042.1:p.Arg423Leu
NM_033508.1:c.1262G>T NP_277043.1:p.Arg421Leu
NM_000162.4:c.1265G>T NP_000153.1:p.Arg422Leu
NM_001354800.1:c.1265G>T NP_001341729.1:p.Arg422Leu
NM_001354801.1:c.254G>T NP_001341730.1:p.Arg85Leu
NM_001354802.1:c.125G>T NP_001341731.1:p.Arg42Leu
NM_001354803.1:c.299G>T NP_001341732.1:p.Arg100Leu
NM_033507.2:c.1268G>T NP_277042.1:p.Arg423Leu
NM_033508.2:c.1262G>T NP_277043.1:p.Arg421Leu
XM_024446707.1:c.125G>T XP_024302475.1:p.Arg42Leu
NM_000162.5:c.1265G>T MANE Select NP_000153.1:p.Arg422Leu
NM_033507.3:c.1268G>T NP_277042.1:p.Arg423Leu
NM_033508.3:c.1262G>T NP_277043.1:p.Arg421Leu
NM_001354803.2:c.299G>T NP_001341732.1:p.Arg100Leu