Canonical Allele Identifier: CA367400597
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 447416
ClinVar RCV Id: RCV000516870 RCV002463706
dbSNP Id: rs1554335135
MyVariant Identifiers: chr7:g.44187343A>G (hg19) chr7:g.44147744A>G (hg38)
PubMed: PMID:8325892 PMID:8349034 PMID:18271687 PMID:22389783 PMID:24578721
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147744A>G , CM000669.2:g.44147744A>G GRCh38
NC_000007.13:g.44187343A>G , CM000669.1:g.44187343A>G GRCh37
NC_000007.12:g.44153868A>G NCBI36
NG_008847.1:g.46680T>C
NG_008847.2:g.55427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*767T>C ENSP00000379142.4:n.*767T>C
ENST00000616242.5:c.769T>C ENSP00000482149.2:p.Trp257Arg
ENST00000345378.7:c.772T>C ENSP00000223366.2:p.Trp258Arg
ENST00000403799.8:c.769T>C MANE Select ENSP00000384247.3:p.Trp257Arg
ENST00000671824.1:c.769T>C ENSP00000500264.1:p.Trp257Arg
ENST00000673284.1:c.769T>C ENSP00000499852.1:p.Trp257Arg
ENST00000345378.6:c.772T>C ENSP00000223366.2:p.Trp258Arg
ENST00000395796.7:c.766T>C ENSP00000379142.3:p.Trp256Arg
ENST00000403799.7:c.769T>C ENSP00000384247.3:p.Trp257Arg
ENST00000437084.1:c.718T>C ENSP00000402840.1:p.Trp240Arg
ENST00000616242.4:c.766T>C ENSP00000482149.1:p.Trp256Arg
NM_000162.3:c.769T>C NP_000153.1:p.Trp257Arg
NM_033507.1:c.772T>C NP_277042.1:p.Trp258Arg
NM_033508.1:c.766T>C NP_277043.1:p.Trp256Arg
XR_927223.1:n.78A>G
NM_000162.4:c.769T>C NP_000153.1:p.Trp257Arg
NM_001354800.1:c.769T>C NP_001341729.1:p.Trp257Arg
NM_033507.2:c.772T>C NP_277042.1:p.Trp258Arg
NM_033508.2:c.766T>C NP_277043.1:p.Trp256Arg
XR_927223.2:n.78A>G
NM_000162.5:c.769T>C MANE Select NP_000153.1:p.Trp257Arg
NM_033507.3:c.772T>C NP_277042.1:p.Trp258Arg
NM_033508.3:c.766T>C NP_277043.1:p.Trp256Arg
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