Canonical Allele Identifier: CA4239526
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 972775
ClinVar RCV Id: RCV001248985 RCV002463790
dbSNP Id: rs747662793
ExAC: 7:44187339 C / T
gnomAD v2: 7-44187339-C-T
gnomAD v4: 7-44147740-C-T
MyVariant Identifiers: chr7:g.44187339C>T (hg19) chr7:g.44147740C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147740C>T , CM000669.2:g.44147740C>T GRCh38
NC_000007.13:g.44187339C>T , CM000669.1:g.44187339C>T GRCh37
NC_000007.12:g.44153864C>T NCBI36
NG_008847.1:g.46684G>A
NG_008847.2:g.55431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*771G>A ENSP00000379142.4:n.*771G>A
ENST00000616242.5:c.773G>A ENSP00000482149.2:p.Gly258Asp
ENST00000345378.7:c.776G>A ENSP00000223366.2:p.Gly259Asp
ENST00000403799.8:c.773G>A MANE Select ENSP00000384247.3:p.Gly258Asp
ENST00000671824.1:c.773G>A ENSP00000500264.1:p.Gly258Asp
ENST00000673284.1:c.773G>A ENSP00000499852.1:p.Gly258Asp
ENST00000345378.6:c.776G>A ENSP00000223366.2:p.Gly259Asp
ENST00000395796.7:c.770G>A ENSP00000379142.3:p.Gly257Asp
ENST00000403799.7:c.773G>A ENSP00000384247.3:p.Gly258Asp
ENST00000437084.1:c.722G>A ENSP00000402840.1:p.Gly241Asp
ENST00000616242.4:c.770G>A ENSP00000482149.1:p.Gly257Asp
NM_000162.3:c.773G>A NP_000153.1:p.Gly258Asp
NM_033507.1:c.776G>A NP_277042.1:p.Gly259Asp
NM_033508.1:c.770G>A NP_277043.1:p.Gly257Asp
XR_927223.1:n.74C>T
NM_000162.4:c.773G>A NP_000153.1:p.Gly258Asp
NM_001354800.1:c.773G>A NP_001341729.1:p.Gly258Asp
NM_033507.2:c.776G>A NP_277042.1:p.Gly259Asp
NM_033508.2:c.770G>A NP_277043.1:p.Gly257Asp
XR_927223.2:n.74C>T
NM_000162.5:c.773G>A MANE Select NP_000153.1:p.Gly258Asp
NM_033507.3:c.776G>A NP_277042.1:p.Gly259Asp
NM_033508.3:c.770G>A NP_277043.1:p.Gly257Asp
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