Canonical Allele Identifier: CA367402164
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1704058
ClinVar RCV Id: RCV002281393
gnomAD v4: 7-44151055-C-G
MyVariant Identifiers: chr7:g.44190654C>G (hg19) chr7:g.44151055C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151055C>G , CM000669.2:g.44151055C>G GRCh38
NC_000007.13:g.44190654C>G , CM000669.1:g.44190654C>G GRCh37
NC_000007.12:g.44157179C>G NCBI36
NG_008847.1:g.43369G>C
NG_008847.2:g.52116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*382G>C ENSP00000379142.4:n.*382G>C
ENST00000616242.5:c.384G>C ENSP00000482149.2:p.Glu128Asp
ENST00000682635.1:n.870G>C
ENST00000345378.7:c.387G>C ENSP00000223366.2:p.Glu129Asp
ENST00000403799.8:c.384G>C MANE Select ENSP00000384247.3:p.Glu128Asp
ENST00000671824.1:c.384G>C ENSP00000500264.1:p.Glu128Asp
ENST00000673284.1:c.384G>C ENSP00000499852.1:p.Glu128Asp
ENST00000345378.6:c.387G>C ENSP00000223366.2:p.Glu129Asp
ENST00000395796.7:c.381G>C ENSP00000379142.3:p.Glu127Asp
ENST00000403799.7:c.384G>C ENSP00000384247.3:p.Glu128Asp
ENST00000437084.1:c.364-31G>C ENSP00000402840.1:n.364-31G>C
ENST00000616242.4:c.381G>C ENSP00000482149.1:p.Glu127Asp
NM_000162.3:c.384G>C NP_000153.1:p.Glu128Asp
NM_033507.1:c.387G>C NP_277042.1:p.Glu129Asp
NM_033508.1:c.381G>C NP_277043.1:p.Glu127Asp
NM_000162.4:c.384G>C NP_000153.1:p.Glu128Asp
NM_001354800.1:c.384G>C NP_001341729.1:p.Glu128Asp
NM_033507.2:c.387G>C NP_277042.1:p.Glu129Asp
NM_033508.2:c.381G>C NP_277043.1:p.Glu127Asp
NM_000162.5:c.384G>C MANE Select NP_000153.1:p.Glu128Asp
NM_033507.3:c.387G>C NP_277042.1:p.Glu129Asp
NM_033508.3:c.381G>C NP_277043.1:p.Glu127Asp
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