Canonical Allele Identifier: CA4239714

Gene: GCK

Linked Data

• ClinVar Variation Id: 1299600
• ClinVar RCV Id: RCV001730073 ; RCV003331193 ; RCV003883182
• dbSNP Id: rs759514960
• ExAC: 7:44192966 C / T
• gnomAD v2: 7-44192966-C-T
• gnomAD v4: 7-44153367-C-T
• MyVariant Identifiers: chr7:g.44192966C>T (hg19) ; chr7:g.44153367C>T (hg38)
• ERepo: CA4239714/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153367C>T , CM000669.2:g.44153367C>T	GRCh38
NC_000007.13:g.44192966C>T , CM000669.1:g.44192966C>T	GRCh37
NC_000007.12:g.44159491C>T	NCBI36
NG_008847.1:g.41057G>A
NG_008847.2:g.49804G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*140G>A	ENSP00000379142.4:n.*140G>A
ENST00000616242.5:c.142G>A	ENSP00000482149.2:p.Glu48Lys
ENST00000682635.1:n.628G>A
ENST00000345378.7:c.145G>A	ENSP00000223366.2:p.Glu49Lys
ENST00000403799.8:c.142G>A MANE Select	ENSP00000384247.3:p.Glu48Lys
ENST00000671824.1:c.142G>A	ENSP00000500264.1:p.Glu48Lys
ENST00000673284.1:c.142G>A	ENSP00000499852.1:p.Glu48Lys
ENST00000345378.6:c.145G>A	ENSP00000223366.2:p.Glu49Lys
ENST00000395796.7:c.139G>A	ENSP00000379142.3:p.Glu47Lys
ENST00000403799.7:c.142G>A	ENSP00000384247.3:p.Glu48Lys
ENST00000437084.1:c.142G>A	ENSP00000402840.1:p.Glu48Lys
ENST00000616242.4:c.139G>A	ENSP00000482149.1:p.Glu47Lys
NM_000162.3:c.142G>A	NP_000153.1:p.Glu48Lys
NM_033507.1:c.145G>A	NP_277042.1:p.Glu49Lys
NM_033508.1:c.139G>A	NP_277043.1:p.Glu47Lys
NM_000162.4:c.142G>A	NP_000153.1:p.Glu48Lys
NM_001354800.1:c.142G>A	NP_001341729.1:p.Glu48Lys
NM_033507.2:c.145G>A	NP_277042.1:p.Glu49Lys
NM_033508.2:c.139G>A	NP_277043.1:p.Glu47Lys
NM_000162.5:c.142G>A MANE Select	NP_000153.1:p.Glu48Lys
NM_033507.3:c.145G>A	NP_277042.1:p.Glu49Lys
NM_033508.3:c.139G>A	NP_277043.1:p.Glu47Lys