Canonical Allele Identifier: CA16618475
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 420070
dbSNP Id: rs1064794268
gnomAD v4: 7-44153396-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153396T>G , CM000669.2:g.44153396T>G GRCh38
NC_000007.13:g.44192995T>G , CM000669.1:g.44192995T>G GRCh37
NC_000007.12:g.44159520T>G NCBI36
NG_008847.1:g.41028A>C
NG_008847.2:g.49775A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*111A>C ENSP00000379142.4:n.*111A>C
ENST00000616242.5:c.113A>C ENSP00000482149.2:p.Gln38Pro
ENST00000682635.1:n.599A>C
ENST00000345378.7:c.116A>C ENSP00000223366.2:p.Gln39Pro
ENST00000403799.8:c.113A>C MANE Select ENSP00000384247.3:p.Gln38Pro
ENST00000671824.1:c.113A>C ENSP00000500264.1:p.Gln38Pro
ENST00000673284.1:c.113A>C ENSP00000499852.1:p.Gln38Pro
ENST00000345378.6:c.116A>C ENSP00000223366.2:p.Gln39Pro
ENST00000395796.7:c.110A>C ENSP00000379142.3:p.Gln37Pro
ENST00000403799.7:c.113A>C ENSP00000384247.3:p.Gln38Pro
ENST00000437084.1:c.113A>C ENSP00000402840.1:p.Gln38Pro
ENST00000476008.1:n.548A>C
ENST00000616242.4:c.110A>C ENSP00000482149.1:p.Gln37Pro
NM_000162.3:c.113A>C NP_000153.1:p.Gln38Pro
NM_033507.1:c.116A>C NP_277042.1:p.Gln39Pro
NM_033508.1:c.110A>C NP_277043.1:p.Gln37Pro
NM_000162.4:c.113A>C NP_000153.1:p.Gln38Pro
NM_001354800.1:c.113A>C NP_001341729.1:p.Gln38Pro
NM_033507.2:c.116A>C NP_277042.1:p.Gln39Pro
NM_033508.2:c.110A>C NP_277043.1:p.Gln37Pro
NM_000162.5:c.113A>C MANE Select NP_000153.1:p.Gln38Pro
NM_033507.3:c.116A>C NP_277042.1:p.Gln39Pro
NM_033508.3:c.110A>C NP_277043.1:p.Gln37Pro