Canonical Allele Identifier: CA367400637
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2691830
ClinVar RCV Id: RCV003494027
MyVariant Identifiers: chr7:g.44187363C>G (hg19) chr7:g.44147764C>G (hg38)
ERepo: CA367400637/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147764C>G , CM000669.2:g.44147764C>G GRCh38
NC_000007.13:g.44187363C>G , CM000669.1:g.44187363C>G GRCh37
NC_000007.12:g.44153888C>G NCBI36
NG_008847.1:g.46660G>C
NG_008847.2:g.55407G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*747G>C ENSP00000379142.4:n.*747G>C
ENST00000616242.5:c.749G>C ENSP00000482149.2:p.Arg250Pro
ENST00000345378.7:c.752G>C ENSP00000223366.2:p.Arg251Pro
ENST00000403799.8:c.749G>C MANE Select ENSP00000384247.3:p.Arg250Pro
ENST00000671824.1:c.749G>C ENSP00000500264.1:p.Arg250Pro
ENST00000673284.1:c.749G>C ENSP00000499852.1:p.Arg250Pro
ENST00000345378.6:c.752G>C ENSP00000223366.2:p.Arg251Pro
ENST00000395796.7:c.746G>C ENSP00000379142.3:p.Arg249Pro
ENST00000403799.7:c.749G>C ENSP00000384247.3:p.Arg250Pro
ENST00000437084.1:c.698G>C ENSP00000402840.1:p.Arg233Pro
ENST00000616242.4:c.746G>C ENSP00000482149.1:p.Arg249Pro
NM_000162.3:c.749G>C NP_000153.1:p.Arg250Pro
NM_033507.1:c.752G>C NP_277042.1:p.Arg251Pro
NM_033508.1:c.746G>C NP_277043.1:p.Arg249Pro
XR_927223.1:n.82+16C>G
NM_000162.4:c.749G>C NP_000153.1:p.Arg250Pro
NM_001354800.1:c.749G>C NP_001341729.1:p.Arg250Pro
NM_033507.2:c.752G>C NP_277042.1:p.Arg251Pro
NM_033508.2:c.746G>C NP_277043.1:p.Arg249Pro
XR_927223.2:n.82+16C>G
NM_000162.5:c.749G>C MANE Select NP_000153.1:p.Arg250Pro
NM_033507.3:c.752G>C NP_277042.1:p.Arg251Pro
NM_033508.3:c.746G>C NP_277043.1:p.Arg249Pro
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