Canonical Allele Identifier: CA257432
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 16140
dbSNP Id: rs104894012
gnomAD v4: 7-44145171-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145171C>T , CM000669.2:g.44145171C>T GRCh38
NC_000007.13:g.44184770C>T , CM000669.1:g.44184770C>T GRCh37
NC_000007.12:g.44151295C>T NCBI36
NG_008847.1:g.49253G>A
NG_008847.2:g.58000G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1361G>A ENSP00000379142.4:n.*1361G>A
ENST00000616242.5:c.*483G>A ENSP00000482149.2:n.*483G>A
ENST00000683378.1:n.589G>A
ENST00000336642.9:c.397G>A ENSP00000338009.5:p.Val133Met
ENST00000345378.7:c.1366G>A ENSP00000223366.2:p.Val456Met
ENST00000403799.8:c.1363G>A MANE Select ENSP00000384247.3:p.Val455Met
ENST00000671824.1:c.1426G>A ENSP00000500264.1:p.Val476Met
ENST00000672743.1:n.375G>A
ENST00000673284.1:c.1363G>A ENSP00000499852.1:p.Val455Met
ENST00000336642.8:c.415G>A ENSP00000338009.4:p.Val139Met
ENST00000345378.6:c.1366G>A ENSP00000223366.2:p.Val456Met
ENST00000395796.7:c.1360G>A ENSP00000379142.3:p.Val454Met
ENST00000403799.7:c.1363G>A ENSP00000384247.3:p.Val455Met
ENST00000437084.1:c.1312G>A ENSP00000402840.1:p.Val438Met
ENST00000459642.1:n.743G>A
ENST00000616242.4:c.1360G>A ENSP00000482149.1:p.Val454Met
NM_000162.3:c.1363G>A NP_000153.1:p.Val455Met
NM_033507.1:c.1366G>A NP_277042.1:p.Val456Met
NM_033508.1:c.1360G>A NP_277043.1:p.Val454Met
NM_000162.4:c.1363G>A NP_000153.1:p.Val455Met
NM_001354800.1:c.1363G>A NP_001341729.1:p.Val455Met
NM_001354801.1:c.352G>A NP_001341730.1:p.Val118Met
NM_001354802.1:c.223G>A NP_001341731.1:p.Val75Met
NM_001354803.1:c.397G>A NP_001341732.1:p.Val133Met
NM_033507.2:c.1366G>A NP_277042.1:p.Val456Met
NM_033508.2:c.1360G>A NP_277043.1:p.Val454Met
XM_024446707.1:c.223G>A XP_024302475.1:p.Val75Met
NM_000162.5:c.1363G>A MANE Select NP_000153.1:p.Val455Met
NM_033507.3:c.1366G>A NP_277042.1:p.Val456Met
NM_033508.3:c.1360G>A NP_277043.1:p.Val454Met
NM_001354803.2:c.397G>A NP_001341732.1:p.Val133Met