Canonical Allele Identifier: CA367400674
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1758315
ClinVar RCV Id: RCV002380111
MyVariant Identifiers: chr7:g.44187381A>C (hg19) chr7:g.44147782A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147782A>C , CM000669.2:g.44147782A>C GRCh38
NC_000007.13:g.44187381A>C , CM000669.1:g.44187381A>C GRCh37
NC_000007.12:g.44153906A>C NCBI36
NG_008847.1:g.46642T>G
NG_008847.2:g.55389T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*729T>G ENSP00000379142.4:n.*729T>G
ENST00000616242.5:c.731T>G ENSP00000482149.2:p.Val244Gly
ENST00000345378.7:c.734T>G ENSP00000223366.2:p.Val245Gly
ENST00000403799.8:c.731T>G MANE Select ENSP00000384247.3:p.Val244Gly
ENST00000671824.1:c.731T>G ENSP00000500264.1:p.Val244Gly
ENST00000673284.1:c.731T>G ENSP00000499852.1:p.Val244Gly
ENST00000345378.6:c.734T>G ENSP00000223366.2:p.Val245Gly
ENST00000395796.7:c.728T>G ENSP00000379142.3:p.Val243Gly
ENST00000403799.7:c.731T>G ENSP00000384247.3:p.Val244Gly
ENST00000437084.1:c.680T>G ENSP00000402840.1:p.Val227Gly
ENST00000616242.4:c.728T>G ENSP00000482149.1:p.Val243Gly
NM_000162.3:c.731T>G NP_000153.1:p.Val244Gly
NM_033507.1:c.734T>G NP_277042.1:p.Val245Gly
NM_033508.1:c.728T>G NP_277043.1:p.Val243Gly
XR_927223.1:n.82+34A>C
NM_000162.4:c.731T>G NP_000153.1:p.Val244Gly
NM_001354800.1:c.731T>G NP_001341729.1:p.Val244Gly
NM_033507.2:c.734T>G NP_277042.1:p.Val245Gly
NM_033508.2:c.728T>G NP_277043.1:p.Val243Gly
XR_927223.2:n.82+34A>C
NM_000162.5:c.731T>G MANE Select NP_000153.1:p.Val244Gly
NM_033507.3:c.734T>G NP_277042.1:p.Val245Gly
NM_033508.3:c.728T>G NP_277043.1:p.Val243Gly
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