Canonical Allele Identifier: CA367400479

Gene: GCK

Linked Data

• ClinVar Variation Id: 2664365
• ClinVar RCV Id: RCV003445463 ; RCV003479524
• gnomAD v4: 7-44147690-G-C
• MyVariant Identifiers: chr7:g.44187289G>C (hg19) ; chr7:g.44147690G>C (hg38)
• ERepo: CA367400479/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147690G>C , CM000669.2:g.44147690G>C	GRCh38
NC_000007.13:g.44187289G>C , CM000669.1:g.44187289G>C	GRCh37
NC_000007.12:g.44153814G>C	NCBI36
NG_008847.1:g.46734C>G
NG_008847.2:g.55481C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*821C>G	ENSP00000379142.4:n.*821C>G
ENST00000616242.5:c.823C>G	ENSP00000482149.2:p.Arg275Gly
ENST00000345378.7:c.826C>G	ENSP00000223366.2:p.Arg276Gly
ENST00000403799.8:c.823C>G MANE Select	ENSP00000384247.3:p.Arg275Gly
ENST00000671824.1:c.823C>G	ENSP00000500264.1:p.Arg275Gly
ENST00000673284.1:c.823C>G	ENSP00000499852.1:p.Arg275Gly
ENST00000345378.6:c.826C>G	ENSP00000223366.2:p.Arg276Gly
ENST00000395796.7:c.820C>G	ENSP00000379142.3:p.Arg274Gly
ENST00000403799.7:c.823C>G	ENSP00000384247.3:p.Arg275Gly
ENST00000437084.1:c.772C>G	ENSP00000402840.1:p.Arg258Gly
ENST00000616242.4:c.820C>G	ENSP00000482149.1:p.Arg274Gly
NM_000162.3:c.823C>G	NP_000153.1:p.Arg275Gly
NM_033507.1:c.826C>G	NP_277042.1:p.Arg276Gly
NM_033508.1:c.820C>G	NP_277043.1:p.Arg274Gly
XR_927223.1:n.24G>C
NM_000162.4:c.823C>G	NP_000153.1:p.Arg275Gly
NM_001354800.1:c.823C>G	NP_001341729.1:p.Arg275Gly
NM_033507.2:c.826C>G	NP_277042.1:p.Arg276Gly
NM_033508.2:c.820C>G	NP_277043.1:p.Arg274Gly
XR_927223.2:n.24G>C
NM_000162.5:c.823C>G MANE Select	NP_000153.1:p.Arg275Gly
NM_033507.3:c.826C>G	NP_277042.1:p.Arg276Gly
NM_033508.3:c.820C>G	NP_277043.1:p.Arg274Gly