Canonical Allele Identifier: CA4239519

Gene: GCK

Linked Data

• ClinVar Variation Id: 585927
• ClinVar RCV Id: RCV000711786 ; RCV002227212 ; RCV003330319
• dbSNP Id: rs556436603
• ExAC: 7:44187289 G / A
• gnomAD v2: 7-44187289-G-A
• gnomAD v3: 7-44147690-G-A
• gnomAD v4: 7-44147690-G-A
• COSMIC: COSM5062474 ; COSM5062475 ; COSM5062476
• MyVariant Identifiers: chr7:g.44187289G>A (hg19) ; chr7:g.44147690G>A (hg38)
• ERepo: CA4239519/MONDO:0015967/086

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*821C>T	ENSP00000379142.4:n.*821C>T
ENST00000616242.5:c.823C>T	ENSP00000482149.2:p.Arg275Cys
ENST00000345378.7:c.826C>T	ENSP00000223366.2:p.Arg276Cys
ENST00000403799.8:c.823C>T MANE Select	ENSP00000384247.3:p.Arg275Cys
ENST00000671824.1:c.823C>T	ENSP00000500264.1:p.Arg275Cys
ENST00000673284.1:c.823C>T	ENSP00000499852.1:p.Arg275Cys
ENST00000345378.6:c.826C>T	ENSP00000223366.2:p.Arg276Cys
ENST00000395796.7:c.820C>T	ENSP00000379142.3:p.Arg274Cys
ENST00000403799.7:c.823C>T	ENSP00000384247.3:p.Arg275Cys
ENST00000437084.1:c.772C>T	ENSP00000402840.1:p.Arg258Cys
ENST00000616242.4:c.820C>T	ENSP00000482149.1:p.Arg274Cys
NM_000162.3:c.823C>T	NP_000153.1:p.Arg275Cys
NM_033507.1:c.826C>T	NP_277042.1:p.Arg276Cys
NM_033508.1:c.820C>T	NP_277043.1:p.Arg274Cys
XR_927223.1:n.24G>A
NM_000162.4:c.823C>T	NP_000153.1:p.Arg275Cys
NM_001354800.1:c.823C>T	NP_001341729.1:p.Arg275Cys
NM_033507.2:c.826C>T	NP_277042.1:p.Arg276Cys
NM_033508.2:c.820C>T	NP_277043.1:p.Arg274Cys
XR_927223.2:n.24G>A
NM_000162.5:c.823C>T MANE Select	NP_000153.1:p.Arg275Cys
NM_033507.3:c.826C>T	NP_277042.1:p.Arg276Cys
NM_033508.3:c.820C>T	NP_277043.1:p.Arg274Cys