Canonical Allele Identifier: CA367401757
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1309623
ClinVar RCV Id: RCV001765792
dbSNP Id: rs1470521850
MyVariant Identifiers: chr7:g.44189646C>A (hg19) chr7:g.44150047C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150047C>A , CM000669.2:g.44150047C>A GRCh38
NC_000007.13:g.44189646C>A , CM000669.1:g.44189646C>A GRCh37
NC_000007.12:g.44156171C>A NCBI36
NG_008847.1:g.44377G>T
NG_008847.2:g.53124G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*499G>T ENSP00000379142.4:n.*499G>T
ENST00000616242.5:c.501G>T ENSP00000482149.2:p.Trp167Cys
ENST00000682635.1:n.987G>T
ENST00000345378.7:c.504G>T ENSP00000223366.2:p.Trp168Cys
ENST00000403799.8:c.501G>T MANE Select ENSP00000384247.3:p.Trp167Cys
ENST00000671824.1:c.501G>T ENSP00000500264.1:p.Trp167Cys
ENST00000673284.1:c.501G>T ENSP00000499852.1:p.Trp167Cys
ENST00000345378.6:c.504G>T ENSP00000223366.2:p.Trp168Cys
ENST00000395796.7:c.498G>T ENSP00000379142.3:p.Trp166Cys
ENST00000403799.7:c.501G>T ENSP00000384247.3:p.Trp167Cys
ENST00000437084.1:c.450G>T ENSP00000402840.1:p.Trp150Cys
ENST00000616242.4:c.498G>T ENSP00000482149.1:p.Trp166Cys
NM_000162.3:c.501G>T NP_000153.1:p.Trp167Cys
NM_033507.1:c.504G>T NP_277042.1:p.Trp168Cys
NM_033508.1:c.498G>T NP_277043.1:p.Trp166Cys
NM_000162.4:c.501G>T NP_000153.1:p.Trp167Cys
NM_001354800.1:c.501G>T NP_001341729.1:p.Trp167Cys
NM_033507.2:c.504G>T NP_277042.1:p.Trp168Cys
NM_033508.2:c.498G>T NP_277043.1:p.Trp166Cys
NM_000162.5:c.501G>T MANE Select NP_000153.1:p.Trp167Cys
NM_033507.3:c.504G>T NP_277042.1:p.Trp168Cys
NM_033508.3:c.498G>T NP_277043.1:p.Trp166Cys
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