Canonical Allele Identifier: CA367397316
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 447388
dbSNP Id: rs1554334478

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145279A>G , CM000669.2:g.44145279A>G GRCh38
NC_000007.13:g.44184878A>G , CM000669.1:g.44184878A>G GRCh37
NC_000007.12:g.44151403A>G NCBI36
NG_008847.1:g.49145T>C
NG_008847.2:g.57892T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1253T>C ENSP00000379142.4:n.*1253T>C
ENST00000616242.5:c.*375T>C ENSP00000482149.2:n.*375T>C
ENST00000683378.1:n.481T>C
ENST00000336642.9:c.289T>C ENSP00000338009.5:p.Phe97Leu
ENST00000345378.7:c.1258T>C ENSP00000223366.2:p.Phe420Leu
ENST00000403799.8:c.1255T>C MANE Select ENSP00000384247.3:p.Phe419Leu
ENST00000671824.1:c.1318T>C ENSP00000500264.1:p.Phe440Leu
ENST00000672743.1:n.267T>C
ENST00000673284.1:c.1255T>C ENSP00000499852.1:p.Phe419Leu
ENST00000336642.8:c.307T>C ENSP00000338009.4:p.Phe103Leu
ENST00000345378.6:c.1258T>C ENSP00000223366.2:p.Phe420Leu
ENST00000395796.7:c.1252T>C ENSP00000379142.3:p.Phe418Leu
ENST00000403799.7:c.1255T>C ENSP00000384247.3:p.Phe419Leu
ENST00000437084.1:c.1204T>C ENSP00000402840.1:p.Phe402Leu
ENST00000459642.1:n.635T>C
ENST00000616242.4:c.1252T>C ENSP00000482149.1:p.Phe418Leu
NM_000162.3:c.1255T>C NP_000153.1:p.Phe419Leu
NM_033507.1:c.1258T>C NP_277042.1:p.Phe420Leu
NM_033508.1:c.1252T>C NP_277043.1:p.Phe418Leu
NM_000162.4:c.1255T>C NP_000153.1:p.Phe419Leu
NM_001354800.1:c.1255T>C NP_001341729.1:p.Phe419Leu
NM_001354801.1:c.244T>C NP_001341730.1:p.Phe82Leu
NM_001354802.1:c.115T>C NP_001341731.1:p.Phe39Leu
NM_001354803.1:c.289T>C NP_001341732.1:p.Phe97Leu
NM_033507.2:c.1258T>C NP_277042.1:p.Phe420Leu
NM_033508.2:c.1252T>C NP_277043.1:p.Phe418Leu
XM_024446707.1:c.115T>C XP_024302475.1:p.Phe39Leu
NM_000162.5:c.1255T>C MANE Select NP_000153.1:p.Phe419Leu
NM_033507.3:c.1258T>C NP_277042.1:p.Phe420Leu
NM_033508.3:c.1252T>C NP_277043.1:p.Phe418Leu
NM_001354803.2:c.289T>C NP_001341732.1:p.Phe97Leu