Canonical Allele Identifier: CA367396721
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578351
ClinVar RCV Id: RCV003326077

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145138A>G , CM000669.2:g.44145138A>G GRCh38
NC_000007.13:g.44184737A>G , CM000669.1:g.44184737A>G GRCh37
NC_000007.12:g.44151262A>G NCBI36
NG_008847.1:g.49286T>C
NG_008847.2:g.58033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1394T>C ENSP00000379142.4:n.*1394T>C
ENST00000616242.5:c.*516T>C ENSP00000482149.2:n.*516T>C
ENST00000683378.1:n.622T>C
ENST00000336642.9:c.430T>C ENSP00000338009.5:p.Ter144Arg
ENST00000345378.7:c.1399T>C ENSP00000223366.2:p.Ter467Arg
ENST00000403799.8:c.1396T>C MANE Select ENSP00000384247.3:p.Ter466Arg
ENST00000671824.1:c.1459T>C ENSP00000500264.1:p.Ter487Arg
ENST00000672743.1:n.381+27T>C
ENST00000673284.1:c.1369+27T>C ENSP00000499852.1:n.1369+27T>C
ENST00000336642.8:c.448T>C ENSP00000338009.4:p.Ter150Arg
ENST00000345378.6:c.1399T>C ENSP00000223366.2:p.Ter467Arg
ENST00000395796.7:c.1393T>C ENSP00000379142.3:p.Ter465Arg
ENST00000403799.7:c.1396T>C ENSP00000384247.3:p.Ter466Arg
ENST00000437084.1:c.1345T>C ENSP00000402840.1:p.Ter449Arg
ENST00000459642.1:n.776T>C
ENST00000616242.4:c.1393T>C ENSP00000482149.1:p.Ter465Arg
NM_000162.3:c.1396T>C NP_000153.1:p.Ter466Arg
NM_033507.1:c.1399T>C NP_277042.1:p.Ter467Arg
NM_033508.1:c.1393T>C NP_277043.1:p.Ter465Arg
NM_000162.4:c.1396T>C NP_000153.1:p.Ter466Arg
NM_001354800.1:c.1369+27T>C NP_001341729.1:n.1369+27T>C
NM_001354801.1:c.385T>C NP_001341730.1:p.Ter129Arg
NM_001354802.1:c.229+27T>C NP_001341731.1:n.229+27T>C
NM_001354803.1:c.430T>C NP_001341732.1:p.Ter144Arg
NM_033507.2:c.1399T>C NP_277042.1:p.Ter467Arg
NM_033508.2:c.1393T>C NP_277043.1:p.Ter465Arg
XM_024446707.1:c.256T>C XP_024302475.1:p.Ter86Arg
NM_000162.5:c.1396T>C MANE Select NP_000153.1:p.Ter466Arg
NM_033507.3:c.1399T>C NP_277042.1:p.Ter467Arg
NM_033508.3:c.1393T>C NP_277043.1:p.Ter465Arg
NM_001354803.2:c.430T>C NP_001341732.1:p.Ter144Arg