Canonical Allele Identifier: CA367398741
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804835
dbSNP Id: rs1583591809

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145604G>T , CM000669.2:g.44145604G>T GRCh38
NC_000007.13:g.44185203G>T , CM000669.1:g.44185203G>T GRCh37
NC_000007.12:g.44151728G>T NCBI36
NG_008847.1:g.48820C>A
NG_008847.2:g.57567C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1144C>A ENSP00000379142.4:n.*1144C>A
ENST00000616242.5:c.*266C>A ENSP00000482149.2:n.*266C>A
ENST00000683378.1:n.372C>A
ENST00000336642.9:c.180C>A ENSP00000338009.5:p.Cys60Ter
ENST00000345378.7:c.1149C>A ENSP00000223366.2:p.Cys383Ter
ENST00000403799.8:c.1146C>A MANE Select ENSP00000384247.3:p.Cys382Ter
ENST00000671824.1:c.1209C>A ENSP00000500264.1:p.Cys403Ter
ENST00000672743.1:n.158C>A
ENST00000673284.1:c.1146C>A ENSP00000499852.1:p.Cys382Ter
ENST00000336642.8:c.198C>A ENSP00000338009.4:p.Cys66Ter
ENST00000345378.6:c.1149C>A ENSP00000223366.2:p.Cys383Ter
ENST00000395796.7:c.1143C>A ENSP00000379142.3:p.Cys381Ter
ENST00000403799.7:c.1146C>A ENSP00000384247.3:p.Cys382Ter
ENST00000437084.1:c.1095C>A ENSP00000402840.1:p.Cys365Ter
ENST00000459642.1:n.526C>A
ENST00000616242.4:c.1143C>A ENSP00000482149.1:p.Cys381Ter
NM_000162.3:c.1146C>A NP_000153.1:p.Cys382Ter
NM_033507.1:c.1149C>A NP_277042.1:p.Cys383Ter
NM_033508.1:c.1143C>A NP_277043.1:p.Cys381Ter
NM_000162.4:c.1146C>A NP_000153.1:p.Cys382Ter
NM_001354800.1:c.1146C>A NP_001341729.1:p.Cys382Ter
NM_001354801.1:c.135C>A NP_001341730.1:p.Cys45Ter
NM_001354802.1:c.6C>A NP_001341731.1:p.Cys2Ter
NM_001354803.1:c.180C>A NP_001341732.1:p.Cys60Ter
NM_033507.2:c.1149C>A NP_277042.1:p.Cys383Ter
NM_033508.2:c.1143C>A NP_277043.1:p.Cys381Ter
XM_024446707.1:c.6C>A XP_024302475.1:p.Cys2Ter
NM_000162.5:c.1146C>A MANE Select NP_000153.1:p.Cys382Ter
NM_033507.3:c.1149C>A NP_277042.1:p.Cys383Ter
NM_033508.3:c.1143C>A NP_277043.1:p.Cys381Ter
NM_001354803.2:c.180C>A NP_001341732.1:p.Cys60Ter