Canonical Allele Identifier: CA367401165

Gene: GCK

Linked Data

• ClinVar Variation Id: 435306
• ClinVar RCV Id: RCV000502130 ; RCV000517681 ; RCV000763585 ; RCV002367690 ; RCV003403165
• dbSNP Id: rs1360415315
• gnomAD v4: 7-44149772-C-T
• MyVariant Identifiers: chr7:g.44189371C>T (hg19) ; chr7:g.44149772C>T (hg38)
• PubMed: PMID:11508276 ; PMID:16965331 ; PMID:17573900 ; PMID:22291974 ; PMID:22493702

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149772C>T , CM000669.2:g.44149772C>T	GRCh38
NC_000007.13:g.44189371C>T , CM000669.1:g.44189371C>T	GRCh37
NC_000007.12:g.44155896C>T	NCBI36
NG_008847.1:g.44652G>A
NG_008847.2:g.53399G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*665G>A	ENSP00000379142.4:n.*665G>A
ENST00000616242.5:c.667G>A	ENSP00000482149.2:p.Gly223Ser
ENST00000682635.1:n.1153G>A
ENST00000345378.7:c.670G>A	ENSP00000223366.2:p.Gly224Ser
ENST00000403799.8:c.667G>A MANE Select	ENSP00000384247.3:p.Gly223Ser
ENST00000671824.1:c.667G>A	ENSP00000500264.1:p.Gly223Ser
ENST00000673284.1:c.667G>A	ENSP00000499852.1:p.Gly223Ser
ENST00000345378.6:c.670G>A	ENSP00000223366.2:p.Gly224Ser
ENST00000395796.7:c.664G>A	ENSP00000379142.3:p.Gly222Ser
ENST00000403799.7:c.667G>A	ENSP00000384247.3:p.Gly223Ser
ENST00000437084.1:c.616G>A	ENSP00000402840.1:p.Gly206Ser
ENST00000616242.4:c.664G>A	ENSP00000482149.1:p.Gly222Ser
NM_000162.3:c.667G>A	NP_000153.1:p.Gly223Ser
NM_033507.1:c.670G>A	NP_277042.1:p.Gly224Ser
NM_033508.1:c.664G>A	NP_277043.1:p.Gly222Ser
XR_927223.1:n.287C>T
NM_000162.4:c.667G>A	NP_000153.1:p.Gly223Ser
NM_001354800.1:c.667G>A	NP_001341729.1:p.Gly223Ser
NM_033507.2:c.670G>A	NP_277042.1:p.Gly224Ser
NM_033508.2:c.664G>A	NP_277043.1:p.Gly222Ser
XR_927223.2:n.287C>T
NM_000162.5:c.667G>A MANE Select	NP_000153.1:p.Gly223Ser
NM_033507.3:c.670G>A	NP_277042.1:p.Gly224Ser
NM_033508.3:c.664G>A	NP_277043.1:p.Gly222Ser