Canonical Allele Identifier: CA213790
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36223
ClinVar RCV Id: RCV000029886 RCV001753431 RCV002336094 RCV004527306
dbSNP Id: rs193922301
MyVariant Identifiers: chr7:g.44190575T>C (hg19) chr7:g.44150976T>C (hg38)
ERepo: CA213790/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150976T>C , CM000669.2:g.44150976T>C GRCh38
NC_000007.13:g.44190575T>C , CM000669.1:g.44190575T>C GRCh37
NC_000007.12:g.44157100T>C NCBI36
NG_008847.1:g.43448A>G
NG_008847.2:g.52195A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*461A>G ENSP00000379142.4:n.*461A>G
ENST00000616242.5:c.463A>G ENSP00000482149.2:p.Arg155Gly
ENST00000682635.1:n.949A>G
ENST00000345378.7:c.466A>G ENSP00000223366.2:p.Arg156Gly
ENST00000403799.8:c.463A>G MANE Select ENSP00000384247.3:p.Arg155Gly
ENST00000671824.1:c.463A>G ENSP00000500264.1:p.Arg155Gly
ENST00000673284.1:c.463A>G ENSP00000499852.1:p.Arg155Gly
ENST00000345378.6:c.466A>G ENSP00000223366.2:p.Arg156Gly
ENST00000395796.7:c.460A>G ENSP00000379142.3:p.Arg154Gly
ENST00000403799.7:c.463A>G ENSP00000384247.3:p.Arg155Gly
ENST00000437084.1:c.412A>G ENSP00000402840.1:p.Arg138Gly
ENST00000616242.4:c.460A>G ENSP00000482149.1:p.Arg154Gly
NM_000162.3:c.463A>G NP_000153.1:p.Arg155Gly
NM_033507.1:c.466A>G NP_277042.1:p.Arg156Gly
NM_033508.1:c.460A>G NP_277043.1:p.Arg154Gly
NM_000162.4:c.463A>G NP_000153.1:p.Arg155Gly
NM_001354800.1:c.463A>G NP_001341729.1:p.Arg155Gly
NM_033507.2:c.466A>G NP_277042.1:p.Arg156Gly
NM_033508.2:c.460A>G NP_277043.1:p.Arg154Gly
NM_000162.5:c.463A>G MANE Select NP_000153.1:p.Arg155Gly
NM_033507.3:c.466A>G NP_277042.1:p.Arg156Gly
NM_033508.3:c.460A>G NP_277043.1:p.Arg154Gly
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