Canonical Allele Identifier: CA367397281
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 910353
dbSNP Id: rs1257648811
gnomAD v2: 7-44184871-T-C
gnomAD v4: 7-44145272-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145272T>C , CM000669.2:g.44145272T>C GRCh38
NC_000007.13:g.44184871T>C , CM000669.1:g.44184871T>C GRCh37
NC_000007.12:g.44151396T>C NCBI36
NG_008847.1:g.49152A>G
NG_008847.2:g.57899A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1260A>G ENSP00000379142.4:n.*1260A>G
ENST00000616242.5:c.*382A>G ENSP00000482149.2:n.*382A>G
ENST00000683378.1:n.488A>G
ENST00000336642.9:c.296A>G ENSP00000338009.5:p.Glu99Gly
ENST00000345378.7:c.1265A>G ENSP00000223366.2:p.Glu422Gly
ENST00000403799.8:c.1262A>G MANE Select ENSP00000384247.3:p.Glu421Gly
ENST00000671824.1:c.1325A>G ENSP00000500264.1:p.Glu442Gly
ENST00000672743.1:n.274A>G
ENST00000673284.1:c.1262A>G ENSP00000499852.1:p.Glu421Gly
ENST00000336642.8:c.314A>G ENSP00000338009.4:p.Glu105Gly
ENST00000345378.6:c.1265A>G ENSP00000223366.2:p.Glu422Gly
ENST00000395796.7:c.1259A>G ENSP00000379142.3:p.Glu420Gly
ENST00000403799.7:c.1262A>G ENSP00000384247.3:p.Glu421Gly
ENST00000437084.1:c.1211A>G ENSP00000402840.1:p.Glu404Gly
ENST00000459642.1:n.642A>G
ENST00000616242.4:c.1259A>G ENSP00000482149.1:p.Glu420Gly
NM_000162.3:c.1262A>G NP_000153.1:p.Glu421Gly
NM_033507.1:c.1265A>G NP_277042.1:p.Glu422Gly
NM_033508.1:c.1259A>G NP_277043.1:p.Glu420Gly
NM_000162.4:c.1262A>G NP_000153.1:p.Glu421Gly
NM_001354800.1:c.1262A>G NP_001341729.1:p.Glu421Gly
NM_001354801.1:c.251A>G NP_001341730.1:p.Glu84Gly
NM_001354802.1:c.122A>G NP_001341731.1:p.Glu41Gly
NM_001354803.1:c.296A>G NP_001341732.1:p.Glu99Gly
NM_033507.2:c.1265A>G NP_277042.1:p.Glu422Gly
NM_033508.2:c.1259A>G NP_277043.1:p.Glu420Gly
XM_024446707.1:c.122A>G XP_024302475.1:p.Glu41Gly
NM_000162.5:c.1262A>G MANE Select NP_000153.1:p.Glu421Gly
NM_033507.3:c.1265A>G NP_277042.1:p.Glu422Gly
NM_033508.3:c.1259A>G NP_277043.1:p.Glu420Gly
NM_001354803.2:c.296A>G NP_001341732.1:p.Glu99Gly