Canonical Allele Identifier: CA367397071
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1679548
ClinVar RCV Id: RCV002227427
dbSNP Id: rs2128818820

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145222A>C , CM000669.2:g.44145222A>C GRCh38
NC_000007.13:g.44184821A>C , CM000669.1:g.44184821A>C GRCh37
NC_000007.12:g.44151346A>C NCBI36
NG_008847.1:g.49202T>G
NG_008847.2:g.57949T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1310T>G ENSP00000379142.4:n.*1310T>G
ENST00000616242.5:c.*432T>G ENSP00000482149.2:n.*432T>G
ENST00000683378.1:n.538T>G
ENST00000336642.9:c.346T>G ENSP00000338009.5:p.Phe116Val
ENST00000345378.7:c.1315T>G ENSP00000223366.2:p.Phe439Val
ENST00000403799.8:c.1312T>G MANE Select ENSP00000384247.3:p.Phe438Val
ENST00000671824.1:c.1375T>G ENSP00000500264.1:p.Phe459Val
ENST00000672743.1:n.324T>G
ENST00000673284.1:c.1312T>G ENSP00000499852.1:p.Phe438Val
ENST00000336642.8:c.364T>G ENSP00000338009.4:p.Phe122Val
ENST00000345378.6:c.1315T>G ENSP00000223366.2:p.Phe439Val
ENST00000395796.7:c.1309T>G ENSP00000379142.3:p.Phe437Val
ENST00000403799.7:c.1312T>G ENSP00000384247.3:p.Phe438Val
ENST00000437084.1:c.1261T>G ENSP00000402840.1:p.Phe421Val
ENST00000459642.1:n.692T>G
ENST00000616242.4:c.1309T>G ENSP00000482149.1:p.Phe437Val
NM_000162.3:c.1312T>G NP_000153.1:p.Phe438Val
NM_033507.1:c.1315T>G NP_277042.1:p.Phe439Val
NM_033508.1:c.1309T>G NP_277043.1:p.Phe437Val
NM_000162.4:c.1312T>G NP_000153.1:p.Phe438Val
NM_001354800.1:c.1312T>G NP_001341729.1:p.Phe438Val
NM_001354801.1:c.301T>G NP_001341730.1:p.Phe101Val
NM_001354802.1:c.172T>G NP_001341731.1:p.Phe58Val
NM_001354803.1:c.346T>G NP_001341732.1:p.Phe116Val
NM_033507.2:c.1315T>G NP_277042.1:p.Phe439Val
NM_033508.2:c.1309T>G NP_277043.1:p.Phe437Val
XM_024446707.1:c.172T>G XP_024302475.1:p.Phe58Val
NM_000162.5:c.1312T>G MANE Select NP_000153.1:p.Phe438Val
NM_033507.3:c.1315T>G NP_277042.1:p.Phe439Val
NM_033508.3:c.1309T>G NP_277043.1:p.Phe437Val
NM_001354803.2:c.346T>G NP_001341732.1:p.Phe116Val