Canonical Allele Identifier: CA206279

Gene: GCK

Linked Data

• ClinVar Variation Id: 211075
• ClinVar RCV Id: RCV000193049 ; RCV002463660 ; RCV002478669 ; RCV003765221
• dbSNP Id: rs779460424
• ExAC: 7:44187328 C / T
• gnomAD v2: 7-44187328-C-T
• gnomAD v3: 7-44147729-C-T
• gnomAD v4: 7-44147729-C-T
• COSMIC: COSM5407528 ; COSM5407529 ; COSM5407530
• MyVariant Identifiers: chr7:g.44187328C>T (hg19) ; chr7:g.44147729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147729C>T , CM000669.2:g.44147729C>T	GRCh38
NC_000007.13:g.44187328C>T , CM000669.1:g.44187328C>T	GRCh37
NC_000007.12:g.44153853C>T	NCBI36
NG_008847.1:g.46695G>A
NG_008847.2:g.55442G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*782G>A	ENSP00000379142.4:n.*782G>A
ENST00000616242.5:c.784G>A	ENSP00000482149.2:p.Asp262Asn
ENST00000345378.7:c.787G>A	ENSP00000223366.2:p.Asp263Asn
ENST00000403799.8:c.784G>A MANE Select	ENSP00000384247.3:p.Asp262Asn
ENST00000671824.1:c.784G>A	ENSP00000500264.1:p.Asp262Asn
ENST00000673284.1:c.784G>A	ENSP00000499852.1:p.Asp262Asn
ENST00000345378.6:c.787G>A	ENSP00000223366.2:p.Asp263Asn
ENST00000395796.7:c.781G>A	ENSP00000379142.3:p.Asp261Asn
ENST00000403799.7:c.784G>A	ENSP00000384247.3:p.Asp262Asn
ENST00000437084.1:c.733G>A	ENSP00000402840.1:p.Asp245Asn
ENST00000616242.4:c.781G>A	ENSP00000482149.1:p.Asp261Asn
NM_000162.3:c.784G>A	NP_000153.1:p.Asp262Asn
NM_033507.1:c.787G>A	NP_277042.1:p.Asp263Asn
NM_033508.1:c.781G>A	NP_277043.1:p.Asp261Asn
XR_927223.1:n.63C>T
NM_000162.4:c.784G>A	NP_000153.1:p.Asp262Asn
NM_001354800.1:c.784G>A	NP_001341729.1:p.Asp262Asn
NM_033507.2:c.787G>A	NP_277042.1:p.Asp263Asn
NM_033508.2:c.781G>A	NP_277043.1:p.Asp261Asn
XR_927223.2:n.63C>T
NM_000162.5:c.784G>A MANE Select	NP_000153.1:p.Asp262Asn
NM_033507.3:c.787G>A	NP_277042.1:p.Asp263Asn
NM_033508.3:c.781G>A	NP_277043.1:p.Asp261Asn