Canonical Allele Identifier: CA367397265
Gene: GCK HGNC NCBI

Linked Data

gnomAD v3: 7-44145269-C-T
gnomAD v4: 7-44145269-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145269C>T , CM000669.2:g.44145269C>T GRCh38
NC_000007.13:g.44184868C>T , CM000669.1:g.44184868C>T GRCh37
NC_000007.12:g.44151393C>T NCBI36
NG_008847.1:g.49155G>A
NG_008847.2:g.57902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1263G>A ENSP00000379142.4:n.*1263G>A
ENST00000616242.5:c.*385G>A ENSP00000482149.2:n.*385G>A
ENST00000683378.1:n.491G>A
ENST00000336642.9:c.299G>A ENSP00000338009.5:p.Arg100Gln
ENST00000345378.7:c.1268G>A ENSP00000223366.2:p.Arg423Gln
ENST00000403799.8:c.1265G>A MANE Select ENSP00000384247.3:p.Arg422Gln
ENST00000671824.1:c.1328G>A ENSP00000500264.1:p.Arg443Gln
ENST00000672743.1:n.277G>A
ENST00000673284.1:c.1265G>A ENSP00000499852.1:p.Arg422Gln
ENST00000336642.8:c.317G>A ENSP00000338009.4:p.Arg106Gln
ENST00000345378.6:c.1268G>A ENSP00000223366.2:p.Arg423Gln
ENST00000395796.7:c.1262G>A ENSP00000379142.3:p.Arg421Gln
ENST00000403799.7:c.1265G>A ENSP00000384247.3:p.Arg422Gln
ENST00000437084.1:c.1214G>A ENSP00000402840.1:p.Arg405Gln
ENST00000459642.1:n.645G>A
ENST00000616242.4:c.1262G>A ENSP00000482149.1:p.Arg421Gln
NM_000162.3:c.1265G>A NP_000153.1:p.Arg422Gln
NM_033507.1:c.1268G>A NP_277042.1:p.Arg423Gln
NM_033508.1:c.1262G>A NP_277043.1:p.Arg421Gln
NM_000162.4:c.1265G>A NP_000153.1:p.Arg422Gln
NM_001354800.1:c.1265G>A NP_001341729.1:p.Arg422Gln
NM_001354801.1:c.254G>A NP_001341730.1:p.Arg85Gln
NM_001354802.1:c.125G>A NP_001341731.1:p.Arg42Gln
NM_001354803.1:c.299G>A NP_001341732.1:p.Arg100Gln
NM_033507.2:c.1268G>A NP_277042.1:p.Arg423Gln
NM_033508.2:c.1262G>A NP_277043.1:p.Arg421Gln
XM_024446707.1:c.125G>A XP_024302475.1:p.Arg42Gln
NM_000162.5:c.1265G>A MANE Select NP_000153.1:p.Arg422Gln
NM_033507.3:c.1268G>A NP_277042.1:p.Arg423Gln
NM_033508.3:c.1262G>A NP_277043.1:p.Arg421Gln
NM_001354803.2:c.299G>A NP_001341732.1:p.Arg100Gln