Canonical Allele Identifier: CA16609264

Gene: GCK

Linked Data

• ClinVar Variation Id: 393447
• ClinVar RCV Id: RCV000445420 ; RCV001584122
• dbSNP Id: rs1057524900
• gnomAD v2: 7-44184772-G-T
• gnomAD v4: 7-44145173-G-T
• MyVariant Identifiers: chr7:g.44184772G>T (hg19) ; chr7:g.44145173G>T (hg38)
• ERepo: CA16609264/MONDO:0015967/086
• PubMed: PMID:14517956 ; PMID:16602010 ; PMID:17204055 ; PMID:20337973 ; PMID:22035297

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145173G>T , CM000669.2:g.44145173G>T	GRCh38
NC_000007.13:g.44184772G>T , CM000669.1:g.44184772G>T	GRCh37
NC_000007.12:g.44151297G>T	NCBI36
NG_008847.1:g.49251C>A
NG_008847.2:g.57998C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1359C>A	ENSP00000379142.4:n.*1359C>A
ENST00000616242.5:c.*481C>A	ENSP00000482149.2:n.*481C>A
ENST00000683378.1:n.587C>A
ENST00000336642.9:c.395C>A	ENSP00000338009.5:p.Ala132Glu
ENST00000345378.7:c.1364C>A	ENSP00000223366.2:p.Ala455Glu
ENST00000403799.8:c.1361C>A MANE Select	ENSP00000384247.3:p.Ala454Glu
ENST00000671824.1:c.1424C>A	ENSP00000500264.1:p.Ala475Glu
ENST00000672743.1:n.373C>A
ENST00000673284.1:c.1361C>A	ENSP00000499852.1:p.Ala454Glu
ENST00000336642.8:c.413C>A	ENSP00000338009.4:p.Ala138Glu
ENST00000345378.6:c.1364C>A	ENSP00000223366.2:p.Ala455Glu
ENST00000395796.7:c.1358C>A	ENSP00000379142.3:p.Ala453Glu
ENST00000403799.7:c.1361C>A	ENSP00000384247.3:p.Ala454Glu
ENST00000437084.1:c.1310C>A	ENSP00000402840.1:p.Ala437Glu
ENST00000459642.1:n.741C>A
ENST00000616242.4:c.1358C>A	ENSP00000482149.1:p.Ala453Glu
NM_000162.3:c.1361C>A	NP_000153.1:p.Ala454Glu
NM_033507.1:c.1364C>A	NP_277042.1:p.Ala455Glu
NM_033508.1:c.1358C>A	NP_277043.1:p.Ala453Glu
NM_000162.4:c.1361C>A	NP_000153.1:p.Ala454Glu
NM_001354800.1:c.1361C>A	NP_001341729.1:p.Ala454Glu
NM_001354801.1:c.350C>A	NP_001341730.1:p.Ala117Glu
NM_001354802.1:c.221C>A	NP_001341731.1:p.Ala74Glu
NM_001354803.1:c.395C>A	NP_001341732.1:p.Ala132Glu
NM_033507.2:c.1364C>A	NP_277042.1:p.Ala455Glu
NM_033508.2:c.1358C>A	NP_277043.1:p.Ala453Glu
XM_024446707.1:c.221C>A	XP_024302475.1:p.Ala74Glu
NM_000162.5:c.1361C>A MANE Select	NP_000153.1:p.Ala454Glu
NM_033507.3:c.1364C>A	NP_277042.1:p.Ala455Glu
NM_033508.3:c.1358C>A	NP_277043.1:p.Ala453Glu
NM_001354803.2:c.395C>A	NP_001341732.1:p.Ala132Glu