Canonical Allele Identifier: CA126207

Gene: GCK

Linked Data

• ClinVar Variation Id: 16132
• ClinVar RCV Id: RCV000017512
• dbSNP Id: rs104894005
• ExAC: 7:44187277 C / A
• gnomAD v2: 7-44187277-C-A
• gnomAD v4: 7-44147678-C-A
• MyVariant Identifiers: chr7:g.44187277C>A (hg19) ; chr7:g.44147678C>A (hg38)
• PubMed: PMID:1349989 ; PMID:1545870 ; PMID:1570017

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*833G>T	ENSP00000379142.4:n.*833G>T
ENST00000616242.5:c.835G>T	ENSP00000482149.2:p.Glu279Ter
ENST00000345378.7:c.838G>T	ENSP00000223366.2:p.Glu280Ter
ENST00000403799.8:c.835G>T MANE Select	ENSP00000384247.3:p.Glu279Ter
ENST00000671824.1:c.835G>T	ENSP00000500264.1:p.Glu279Ter
ENST00000673284.1:c.835G>T	ENSP00000499852.1:p.Glu279Ter
ENST00000345378.6:c.838G>T	ENSP00000223366.2:p.Glu280Ter
ENST00000395796.7:c.832G>T	ENSP00000379142.3:p.Glu278Ter
ENST00000403799.7:c.835G>T	ENSP00000384247.3:p.Glu279Ter
ENST00000437084.1:c.784G>T	ENSP00000402840.1:p.Glu262Ter
ENST00000616242.4:c.832G>T	ENSP00000482149.1:p.Glu278Ter
NM_000162.3:c.835G>T	NP_000153.1:p.Glu279Ter
NM_033507.1:c.838G>T	NP_277042.1:p.Glu280Ter
NM_033508.1:c.832G>T	NP_277043.1:p.Glu278Ter
XR_927223.1:n.12C>A
NM_000162.4:c.835G>T	NP_000153.1:p.Glu279Ter
NM_001354800.1:c.835G>T	NP_001341729.1:p.Glu279Ter
NM_033507.2:c.838G>T	NP_277042.1:p.Glu280Ter
NM_033508.2:c.832G>T	NP_277043.1:p.Glu278Ter
XR_927223.2:n.12C>A
NM_000162.5:c.835G>T MANE Select	NP_000153.1:p.Glu279Ter
NM_033507.3:c.838G>T	NP_277042.1:p.Glu280Ter
NM_033508.3:c.832G>T	NP_277043.1:p.Glu278Ter