Canonical Allele Identifier: CA157915593

Gene: GCK

Linked Data

• ClinVar Variation Id: 1338598
• ClinVar RCV Id: RCV001817969 ; RCV003772342
• dbSNP Id: rs104894005
• gnomAD v2: 7-44187277-C-T
• gnomAD v3: 7-44147678-C-T
• gnomAD v4: 7-44147678-C-T
• MyVariant Identifiers: chr7:g.44187277C>T (hg19) ; chr7:g.44147678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147678C>T , CM000669.2:g.44147678C>T	GRCh38
NC_000007.13:g.44187277C>T , CM000669.1:g.44187277C>T	GRCh37
NC_000007.12:g.44153802C>T	NCBI36
NG_008847.1:g.46746G>A
NG_008847.2:g.55493G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*833G>A	ENSP00000379142.4:n.*833G>A
ENST00000616242.5:c.835G>A	ENSP00000482149.2:p.Glu279Lys
ENST00000345378.7:c.838G>A	ENSP00000223366.2:p.Glu280Lys
ENST00000403799.8:c.835G>A MANE Select	ENSP00000384247.3:p.Glu279Lys
ENST00000671824.1:c.835G>A	ENSP00000500264.1:p.Glu279Lys
ENST00000673284.1:c.835G>A	ENSP00000499852.1:p.Glu279Lys
ENST00000345378.6:c.838G>A	ENSP00000223366.2:p.Glu280Lys
ENST00000395796.7:c.832G>A	ENSP00000379142.3:p.Glu278Lys
ENST00000403799.7:c.835G>A	ENSP00000384247.3:p.Glu279Lys
ENST00000437084.1:c.784G>A	ENSP00000402840.1:p.Glu262Lys
ENST00000616242.4:c.832G>A	ENSP00000482149.1:p.Glu278Lys
NM_000162.3:c.835G>A	NP_000153.1:p.Glu279Lys
NM_033507.1:c.838G>A	NP_277042.1:p.Glu280Lys
NM_033508.1:c.832G>A	NP_277043.1:p.Glu278Lys
XR_927223.1:n.12C>T
NM_000162.4:c.835G>A	NP_000153.1:p.Glu279Lys
NM_001354800.1:c.835G>A	NP_001341729.1:p.Glu279Lys
NM_033507.2:c.838G>A	NP_277042.1:p.Glu280Lys
NM_033508.2:c.832G>A	NP_277043.1:p.Glu278Lys
XR_927223.2:n.12C>T
NM_000162.5:c.835G>A MANE Select	NP_000153.1:p.Glu279Lys
NM_033507.3:c.838G>A	NP_277042.1:p.Glu280Lys
NM_033508.3:c.832G>A	NP_277043.1:p.Glu278Lys