Canonical Allele Identifier: CA367400571

Gene: GCK

Linked Data

• ClinVar Variation Id: 447418
• ClinVar RCV Id: RCV000517324
• dbSNP Id: rs104894008
• MyVariant Identifiers: chr7:g.44187331C>G (hg19) ; chr7:g.44147732C>G (hg38)
• PubMed: PMID:8446612 ; PMID:10525657
• ERepo: CA367400571/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147732C>G , CM000669.2:g.44147732C>G	GRCh38
NC_000007.13:g.44187331C>G , CM000669.1:g.44187331C>G	GRCh37
NC_000007.12:g.44153856C>G	NCBI36
NG_008847.1:g.46692G>C
NG_008847.2:g.55439G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*779G>C	ENSP00000379142.4:n.*779G>C
ENST00000616242.5:c.781G>C	ENSP00000482149.2:p.Gly261Arg
ENST00000345378.7:c.784G>C	ENSP00000223366.2:p.Gly262Arg
ENST00000403799.8:c.781G>C MANE Select	ENSP00000384247.3:p.Gly261Arg
ENST00000671824.1:c.781G>C	ENSP00000500264.1:p.Gly261Arg
ENST00000673284.1:c.781G>C	ENSP00000499852.1:p.Gly261Arg
ENST00000345378.6:c.784G>C	ENSP00000223366.2:p.Gly262Arg
ENST00000395796.7:c.778G>C	ENSP00000379142.3:p.Gly260Arg
ENST00000403799.7:c.781G>C	ENSP00000384247.3:p.Gly261Arg
ENST00000437084.1:c.730G>C	ENSP00000402840.1:p.Gly244Arg
ENST00000616242.4:c.778G>C	ENSP00000482149.1:p.Gly260Arg
NM_000162.3:c.781G>C	NP_000153.1:p.Gly261Arg
NM_033507.1:c.784G>C	NP_277042.1:p.Gly262Arg
NM_033508.1:c.778G>C	NP_277043.1:p.Gly260Arg
XR_927223.1:n.66C>G
NM_000162.4:c.781G>C	NP_000153.1:p.Gly261Arg
NM_001354800.1:c.781G>C	NP_001341729.1:p.Gly261Arg
NM_033507.2:c.784G>C	NP_277042.1:p.Gly262Arg
NM_033508.2:c.778G>C	NP_277043.1:p.Gly260Arg
XR_927223.2:n.66C>G
NM_000162.5:c.781G>C MANE Select	NP_000153.1:p.Gly261Arg
NM_033507.3:c.784G>C	NP_277042.1:p.Gly262Arg
NM_033508.3:c.778G>C	NP_277043.1:p.Gly260Arg