Canonical Allele Identifier: CA367398588
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1950859
ClinVar RCV Id: RCV002681549
gnomAD v4: 7-44145570-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145570G>A , CM000669.2:g.44145570G>A GRCh38
NC_000007.13:g.44185169G>A , CM000669.1:g.44185169G>A GRCh37
NC_000007.12:g.44151694G>A NCBI36
NG_008847.1:g.48854C>T
NG_008847.2:g.57601C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1178C>T ENSP00000379142.4:n.*1178C>T
ENST00000616242.5:c.*300C>T ENSP00000482149.2:n.*300C>T
ENST00000683378.1:n.406C>T
ENST00000336642.9:c.214C>T ENSP00000338009.5:p.Arg72Cys
ENST00000345378.7:c.1183C>T ENSP00000223366.2:p.Arg395Cys
ENST00000403799.8:c.1180C>T MANE Select ENSP00000384247.3:p.Arg394Cys
ENST00000671824.1:c.1243C>T ENSP00000500264.1:p.Arg415Cys
ENST00000672743.1:n.192C>T
ENST00000673284.1:c.1180C>T ENSP00000499852.1:p.Arg394Cys
ENST00000336642.8:c.232C>T ENSP00000338009.4:p.Arg78Cys
ENST00000345378.6:c.1183C>T ENSP00000223366.2:p.Arg395Cys
ENST00000395796.7:c.1177C>T ENSP00000379142.3:p.Arg393Cys
ENST00000403799.7:c.1180C>T ENSP00000384247.3:p.Arg394Cys
ENST00000437084.1:c.1129C>T ENSP00000402840.1:p.Arg377Cys
ENST00000459642.1:n.560C>T
ENST00000616242.4:c.1177C>T ENSP00000482149.1:p.Arg393Cys
NM_000162.3:c.1180C>T NP_000153.1:p.Arg394Cys
NM_033507.1:c.1183C>T NP_277042.1:p.Arg395Cys
NM_033508.1:c.1177C>T NP_277043.1:p.Arg393Cys
NM_000162.4:c.1180C>T NP_000153.1:p.Arg394Cys
NM_001354800.1:c.1180C>T NP_001341729.1:p.Arg394Cys
NM_001354801.1:c.169C>T NP_001341730.1:p.Arg57Cys
NM_001354802.1:c.40C>T NP_001341731.1:p.Arg14Cys
NM_001354803.1:c.214C>T NP_001341732.1:p.Arg72Cys
NM_033507.2:c.1183C>T NP_277042.1:p.Arg395Cys
NM_033508.2:c.1177C>T NP_277043.1:p.Arg393Cys
XM_024446707.1:c.40C>T XP_024302475.1:p.Arg14Cys
NM_000162.5:c.1180C>T MANE Select NP_000153.1:p.Arg394Cys
NM_033507.3:c.1183C>T NP_277042.1:p.Arg395Cys
NM_033508.3:c.1177C>T NP_277043.1:p.Arg393Cys
NM_001354803.2:c.214C>T NP_001341732.1:p.Arg72Cys