Canonical Allele Identifier: CA341589
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 21078
ClinVar RCV Id: RCV000020168 RCV003398550
dbSNP Id: rs193929373
MyVariant Identifiers: chr7:g.44187322C>T (hg19) chr7:g.44147723C>T (hg38)
ERepo: CA341589/MONDO:0015967/086
PubMed: PMID:14578306 PMID:20301620
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147723C>T , CM000669.2:g.44147723C>T GRCh38
NC_000007.13:g.44187322C>T , CM000669.1:g.44187322C>T GRCh37
NC_000007.12:g.44153847C>T NCBI36
NG_008847.1:g.46701G>A
NG_008847.2:g.55448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*788G>A ENSP00000379142.4:n.*788G>A
ENST00000616242.5:c.790G>A ENSP00000482149.2:p.Gly264Ser
ENST00000345378.7:c.793G>A ENSP00000223366.2:p.Gly265Ser
ENST00000403799.8:c.790G>A MANE Select ENSP00000384247.3:p.Gly264Ser
ENST00000671824.1:c.790G>A ENSP00000500264.1:p.Gly264Ser
ENST00000673284.1:c.790G>A ENSP00000499852.1:p.Gly264Ser
ENST00000345378.6:c.793G>A ENSP00000223366.2:p.Gly265Ser
ENST00000395796.7:c.787G>A ENSP00000379142.3:p.Gly263Ser
ENST00000403799.7:c.790G>A ENSP00000384247.3:p.Gly264Ser
ENST00000437084.1:c.739G>A ENSP00000402840.1:p.Gly247Ser
ENST00000616242.4:c.787G>A ENSP00000482149.1:p.Gly263Ser
NM_000162.3:c.790G>A NP_000153.1:p.Gly264Ser
NM_033507.1:c.793G>A NP_277042.1:p.Gly265Ser
NM_033508.1:c.787G>A NP_277043.1:p.Gly263Ser
XR_927223.1:n.57C>T
NM_000162.4:c.790G>A NP_000153.1:p.Gly264Ser
NM_001354800.1:c.790G>A NP_001341729.1:p.Gly264Ser
NM_033507.2:c.793G>A NP_277042.1:p.Gly265Ser
NM_033508.2:c.787G>A NP_277043.1:p.Gly263Ser
XR_927223.2:n.57C>T
NM_000162.5:c.790G>A MANE Select NP_000153.1:p.Gly264Ser
NM_033507.3:c.793G>A NP_277042.1:p.Gly265Ser
NM_033508.3:c.787G>A NP_277043.1:p.Gly263Ser
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