Canonical Allele Identifier: CA367400529
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 447420
ClinVar RCV Id: RCV002463707 RCV001851438 RCV003403215
dbSNP Id: rs1554335111
MyVariant Identifiers: chr7:g.44187310C>T (hg19) chr7:g.44147711C>T (hg38)
ERepo: CA367400529/MONDO:0015967/086
PubMed: PMID:19790256 PMID:25555642
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147711C>T , CM000669.2:g.44147711C>T GRCh38
NC_000007.13:g.44187310C>T , CM000669.1:g.44187310C>T GRCh37
NC_000007.12:g.44153835C>T NCBI36
NG_008847.1:g.46713G>A
NG_008847.2:g.55460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*800G>A ENSP00000379142.4:n.*800G>A
ENST00000616242.5:c.802G>A ENSP00000482149.2:p.Glu268Lys
ENST00000345378.7:c.805G>A ENSP00000223366.2:p.Glu269Lys
ENST00000403799.8:c.802G>A MANE Select ENSP00000384247.3:p.Glu268Lys
ENST00000671824.1:c.802G>A ENSP00000500264.1:p.Glu268Lys
ENST00000673284.1:c.802G>A ENSP00000499852.1:p.Glu268Lys
ENST00000345378.6:c.805G>A ENSP00000223366.2:p.Glu269Lys
ENST00000395796.7:c.799G>A ENSP00000379142.3:p.Glu267Lys
ENST00000403799.7:c.802G>A ENSP00000384247.3:p.Glu268Lys
ENST00000437084.1:c.751G>A ENSP00000402840.1:p.Glu251Lys
ENST00000616242.4:c.799G>A ENSP00000482149.1:p.Glu267Lys
NM_000162.3:c.802G>A NP_000153.1:p.Glu268Lys
NM_033507.1:c.805G>A NP_277042.1:p.Glu269Lys
NM_033508.1:c.799G>A NP_277043.1:p.Glu267Lys
XR_927223.1:n.45C>T
NM_000162.4:c.802G>A NP_000153.1:p.Glu268Lys
NM_001354800.1:c.802G>A NP_001341729.1:p.Glu268Lys
NM_033507.2:c.805G>A NP_277042.1:p.Glu269Lys
NM_033508.2:c.799G>A NP_277043.1:p.Glu267Lys
XR_927223.2:n.45C>T
NM_000162.5:c.802G>A MANE Select NP_000153.1:p.Glu268Lys
NM_033507.3:c.805G>A NP_277042.1:p.Glu269Lys
NM_033508.3:c.799G>A NP_277043.1:p.Glu267Lys
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