Canonical Allele Identifier: CA213739
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36188
ClinVar RCV Id: RCV000029851 RCV000711759 RCV001248969 RCV003398573 RCV004017269
dbSNP Id: rs193922272
ExAC: 7:44185109 T / C
gnomAD v4: 7-44145510-T-C
MyVariant Identifiers: chr7:g.44185109T>C (hg19) chr7:g.44145510T>C (hg38)
PubMed: PMID:8433729
ERepo: CA213739/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145510T>C , CM000669.2:g.44145510T>C GRCh38
NC_000007.13:g.44185109T>C , CM000669.1:g.44185109T>C GRCh37
NC_000007.12:g.44151634T>C NCBI36
NG_008847.1:g.48914A>G
NG_008847.2:g.57661A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1238A>G ENSP00000379142.4:n.*1238A>G
ENST00000616242.5:c.*360A>G ENSP00000482149.2:n.*360A>G
ENST00000683378.1:n.466A>G
ENST00000336642.9:c.274A>G ENSP00000338009.5:p.Lys92Glu
ENST00000345378.7:c.1243A>G ENSP00000223366.2:p.Lys415Glu
ENST00000403799.8:c.1240A>G MANE Select ENSP00000384247.3:p.Lys414Glu
ENST00000671824.1:c.1303A>G ENSP00000500264.1:p.Lys435Glu
ENST00000672743.1:n.252A>G
ENST00000673284.1:c.1240A>G ENSP00000499852.1:p.Lys414Glu
ENST00000336642.8:c.292A>G ENSP00000338009.4:p.Lys98Glu
ENST00000345378.6:c.1243A>G ENSP00000223366.2:p.Lys415Glu
ENST00000395796.7:c.1237A>G ENSP00000379142.3:p.Lys413Glu
ENST00000403799.7:c.1240A>G ENSP00000384247.3:p.Lys414Glu
ENST00000437084.1:c.1189A>G ENSP00000402840.1:p.Lys397Glu
ENST00000459642.1:n.620A>G
ENST00000616242.4:c.1237A>G ENSP00000482149.1:p.Lys413Glu
NM_000162.3:c.1240A>G NP_000153.1:p.Lys414Glu
NM_033507.1:c.1243A>G NP_277042.1:p.Lys415Glu
NM_033508.1:c.1237A>G NP_277043.1:p.Lys413Glu
NM_000162.4:c.1240A>G NP_000153.1:p.Lys414Glu
NM_001354800.1:c.1240A>G NP_001341729.1:p.Lys414Glu
NM_001354801.1:c.229A>G NP_001341730.1:p.Lys77Glu
NM_001354802.1:c.100A>G NP_001341731.1:p.Lys34Glu
NM_001354803.1:c.274A>G NP_001341732.1:p.Lys92Glu
NM_033507.2:c.1243A>G NP_277042.1:p.Lys415Glu
NM_033508.2:c.1237A>G NP_277043.1:p.Lys413Glu
XM_024446707.1:c.100A>G XP_024302475.1:p.Lys34Glu
NM_000162.5:c.1240A>G MANE Select NP_000153.1:p.Lys414Glu
NM_033507.3:c.1243A>G NP_277042.1:p.Lys415Glu
NM_033508.3:c.1237A>G NP_277043.1:p.Lys413Glu
NM_001354803.2:c.274A>G NP_001341732.1:p.Lys92Glu
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