Canonical Allele Identifier: CA367400584

Gene: GCK

Linked Data

• ClinVar Variation Id: 435302
• ClinVar RCV Id: RCV000501758 ; RCV001562849 ; RCV002282182
• dbSNP Id: rs1375656631
• gnomAD v2: 7-44187337-C-T
• gnomAD v4: 7-44147738-C-T
• COSMIC: COSM3230935 ; COSM3230936 ; COSM3881214
• MyVariant Identifiers: chr7:g.44187337C>T (hg19) ; chr7:g.44147738C>T (hg38)
• ERepo: CA367400584/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147738C>T , CM000669.2:g.44147738C>T	GRCh38
NC_000007.13:g.44187337C>T , CM000669.1:g.44187337C>T	GRCh37
NC_000007.12:g.44153862C>T	NCBI36
NG_008847.1:g.46686G>A
NG_008847.2:g.55433G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*773G>A	ENSP00000379142.4:n.*773G>A
ENST00000616242.5:c.775G>A	ENSP00000482149.2:p.Ala259Thr
ENST00000345378.7:c.778G>A	ENSP00000223366.2:p.Ala260Thr
ENST00000403799.8:c.775G>A MANE Select	ENSP00000384247.3:p.Ala259Thr
ENST00000671824.1:c.775G>A	ENSP00000500264.1:p.Ala259Thr
ENST00000673284.1:c.775G>A	ENSP00000499852.1:p.Ala259Thr
ENST00000345378.6:c.778G>A	ENSP00000223366.2:p.Ala260Thr
ENST00000395796.7:c.772G>A	ENSP00000379142.3:p.Ala258Thr
ENST00000403799.7:c.775G>A	ENSP00000384247.3:p.Ala259Thr
ENST00000437084.1:c.724G>A	ENSP00000402840.1:p.Ala242Thr
ENST00000616242.4:c.772G>A	ENSP00000482149.1:p.Ala258Thr
NM_000162.3:c.775G>A	NP_000153.1:p.Ala259Thr
NM_033507.1:c.778G>A	NP_277042.1:p.Ala260Thr
NM_033508.1:c.772G>A	NP_277043.1:p.Ala258Thr
XR_927223.1:n.72C>T
NM_000162.4:c.775G>A	NP_000153.1:p.Ala259Thr
NM_001354800.1:c.775G>A	NP_001341729.1:p.Ala259Thr
NM_033507.2:c.778G>A	NP_277042.1:p.Ala260Thr
NM_033508.2:c.772G>A	NP_277043.1:p.Ala258Thr
XR_927223.2:n.72C>T
NM_000162.5:c.775G>A MANE Select	NP_000153.1:p.Ala259Thr
NM_033507.3:c.778G>A	NP_277042.1:p.Ala260Thr
NM_033508.3:c.772G>A	NP_277043.1:p.Ala258Thr