Canonical Allele Identifier: CA367400790

Gene: GCK

Linked Data

• ClinVar Variation Id: 447413
• ClinVar RCV Id: RCV000516688 ; RCV001248971 ; RCV002367714
• dbSNP Id: rs1332966015
• gnomAD v2: 7-44187430-T-C
• MyVariant Identifiers: chr7:g.44187430T>C (hg19) ; chr7:g.44147831T>C (hg38)
• ERepo: CA367400790/MONDO:0015967/086
• PubMed: PMID:12955723 ; PMID:15102714 ; PMID:15752705 ; PMID:18056790 ; PMID:19551638 ; PMID:19790256 ; PMID:20458967 ; PMID:22389783

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147831T>C , CM000669.2:g.44147831T>C	GRCh38
NC_000007.13:g.44187430T>C , CM000669.1:g.44187430T>C	GRCh37
NC_000007.12:g.44153955T>C	NCBI36
NG_008847.1:g.46593A>G
NG_008847.2:g.55340A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*680A>G	ENSP00000379142.4:n.*680A>G
ENST00000616242.5:c.682A>G	ENSP00000482149.2:p.Thr228Ala
ENST00000345378.7:c.685A>G	ENSP00000223366.2:p.Thr229Ala
ENST00000403799.8:c.682A>G MANE Select	ENSP00000384247.3:p.Thr228Ala
ENST00000671824.1:c.682A>G	ENSP00000500264.1:p.Thr228Ala
ENST00000673284.1:c.682A>G	ENSP00000499852.1:p.Thr228Ala
ENST00000345378.6:c.685A>G	ENSP00000223366.2:p.Thr229Ala
ENST00000395796.7:c.679A>G	ENSP00000379142.3:p.Thr227Ala
ENST00000403799.7:c.682A>G	ENSP00000384247.3:p.Thr228Ala
ENST00000437084.1:c.631A>G	ENSP00000402840.1:p.Thr211Ala
ENST00000616242.4:c.679A>G	ENSP00000482149.1:p.Thr227Ala
NM_000162.3:c.682A>G	NP_000153.1:p.Thr228Ala
NM_033507.1:c.685A>G	NP_277042.1:p.Thr229Ala
NM_033508.1:c.679A>G	NP_277043.1:p.Thr227Ala
XR_927223.1:n.82+83T>C
NM_000162.4:c.682A>G	NP_000153.1:p.Thr228Ala
NM_001354800.1:c.682A>G	NP_001341729.1:p.Thr228Ala
NM_033507.2:c.685A>G	NP_277042.1:p.Thr229Ala
NM_033508.2:c.679A>G	NP_277043.1:p.Thr227Ala
XR_927223.2:n.82+83T>C
NM_000162.5:c.682A>G MANE Select	NP_000153.1:p.Thr228Ala
NM_033507.3:c.685A>G	NP_277042.1:p.Thr229Ala
NM_033508.3:c.679A>G	NP_277043.1:p.Thr227Ala