Canonical Allele Identifier: CA260620
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 16134
ClinVar RCV Id: RCV000020167 RCV000498792 RCV001269032 RCV002362586 RCV003147295 RCV003147296 RCV003883118
dbSNP Id: rs80356655
ExAC: 7:44187429 G / A
gnomAD v2: 7-44187429-G-A
gnomAD v4: 7-44147830-G-A
MyVariant Identifiers: chr7:g.44187429G>A (hg19) chr7:g.44147830G>A (hg38)
ERepo: CA260620/MONDO:0015967/086
PubMed: PMID:1502186 PMID:9049484 PMID:10525657 PMID:11372010 PMID:17573900 PMID:20301620 PMID:21569204
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147830G>A , CM000669.2:g.44147830G>A GRCh38
NC_000007.13:g.44187429G>A , CM000669.1:g.44187429G>A GRCh37
NC_000007.12:g.44153954G>A NCBI36
NG_008847.1:g.46594C>T
NG_008847.2:g.55341C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*681C>T ENSP00000379142.4:n.*681C>T
ENST00000616242.5:c.683C>T ENSP00000482149.2:p.Thr228Met
ENST00000345378.7:c.686C>T ENSP00000223366.2:p.Thr229Met
ENST00000403799.8:c.683C>T MANE Select ENSP00000384247.3:p.Thr228Met
ENST00000671824.1:c.683C>T ENSP00000500264.1:p.Thr228Met
ENST00000673284.1:c.683C>T ENSP00000499852.1:p.Thr228Met
ENST00000345378.6:c.686C>T ENSP00000223366.2:p.Thr229Met
ENST00000395796.7:c.680C>T ENSP00000379142.3:p.Thr227Met
ENST00000403799.7:c.683C>T ENSP00000384247.3:p.Thr228Met
ENST00000437084.1:c.632C>T ENSP00000402840.1:p.Thr211Met
ENST00000616242.4:c.680C>T ENSP00000482149.1:p.Thr227Met
NM_000162.3:c.683C>T NP_000153.1:p.Thr228Met
NM_033507.1:c.686C>T NP_277042.1:p.Thr229Met
NM_033508.1:c.680C>T NP_277043.1:p.Thr227Met
XR_927223.1:n.82+82G>A
NM_000162.4:c.683C>T NP_000153.1:p.Thr228Met
NM_001354800.1:c.683C>T NP_001341729.1:p.Thr228Met
NM_033507.2:c.686C>T NP_277042.1:p.Thr229Met
NM_033508.2:c.680C>T NP_277043.1:p.Thr227Met
XR_927223.2:n.82+82G>A
NM_000162.5:c.683C>T MANE Select NP_000153.1:p.Thr228Met
NM_033507.3:c.686C>T NP_277042.1:p.Thr229Met
NM_033508.3:c.680C>T NP_277043.1:p.Thr227Met
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