Canonical Allele Identifier: CA367398753
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2581125
ClinVar RCV Id: RCV003330367
gnomAD v4: 7-44145606-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145606A>C , CM000669.2:g.44145606A>C GRCh38
NC_000007.13:g.44185205A>C , CM000669.1:g.44185205A>C GRCh37
NC_000007.12:g.44151730A>C NCBI36
NG_008847.1:g.48818T>G
NG_008847.2:g.57565T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1142T>G ENSP00000379142.4:n.*1142T>G
ENST00000616242.5:c.*264T>G ENSP00000482149.2:n.*264T>G
ENST00000683378.1:n.370T>G
ENST00000336642.9:c.178T>G ENSP00000338009.5:p.Cys60Gly
ENST00000345378.7:c.1147T>G ENSP00000223366.2:p.Cys383Gly
ENST00000403799.8:c.1144T>G MANE Select ENSP00000384247.3:p.Cys382Gly
ENST00000671824.1:c.1207T>G ENSP00000500264.1:p.Cys403Gly
ENST00000672743.1:n.156T>G
ENST00000673284.1:c.1144T>G ENSP00000499852.1:p.Cys382Gly
ENST00000336642.8:c.196T>G ENSP00000338009.4:p.Cys66Gly
ENST00000345378.6:c.1147T>G ENSP00000223366.2:p.Cys383Gly
ENST00000395796.7:c.1141T>G ENSP00000379142.3:p.Cys381Gly
ENST00000403799.7:c.1144T>G ENSP00000384247.3:p.Cys382Gly
ENST00000437084.1:c.1093T>G ENSP00000402840.1:p.Cys365Gly
ENST00000459642.1:n.524T>G
ENST00000616242.4:c.1141T>G ENSP00000482149.1:p.Cys381Gly
NM_000162.3:c.1144T>G NP_000153.1:p.Cys382Gly
NM_033507.1:c.1147T>G NP_277042.1:p.Cys383Gly
NM_033508.1:c.1141T>G NP_277043.1:p.Cys381Gly
NM_000162.4:c.1144T>G NP_000153.1:p.Cys382Gly
NM_001354800.1:c.1144T>G NP_001341729.1:p.Cys382Gly
NM_001354801.1:c.133T>G NP_001341730.1:p.Cys45Gly
NM_001354802.1:c.4T>G NP_001341731.1:p.Cys2Gly
NM_001354803.1:c.178T>G NP_001341732.1:p.Cys60Gly
NM_033507.2:c.1147T>G NP_277042.1:p.Cys383Gly
NM_033508.2:c.1141T>G NP_277043.1:p.Cys381Gly
XM_024446707.1:c.4T>G XP_024302475.1:p.Cys2Gly
NM_000162.5:c.1144T>G MANE Select NP_000153.1:p.Cys382Gly
NM_033507.3:c.1147T>G NP_277042.1:p.Cys383Gly
NM_033508.3:c.1141T>G NP_277043.1:p.Cys381Gly
NM_001354803.2:c.178T>G NP_001341732.1:p.Cys60Gly