Canonical Allele Identifier: CA367397285

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571656
• ClinVar RCV Id: RCV003313366
• gnomAD v4: 7-44145273-C-A
• MyVariant Identifiers: chr7:g.44184872C>A (hg19) ; chr7:g.44145273C>A (hg38)
• ERepo: CA367397285/MONDO:0007453/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145273C>A , CM000669.2:g.44145273C>A	GRCh38
NC_000007.13:g.44184872C>A , CM000669.1:g.44184872C>A	GRCh37
NC_000007.12:g.44151397C>A	NCBI36
NG_008847.1:g.49151G>T
NG_008847.2:g.57898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1259G>T	ENSP00000379142.4:n.*1259G>T
ENST00000616242.5:c.*381G>T	ENSP00000482149.2:n.*381G>T
ENST00000683378.1:n.487G>T
ENST00000336642.9:c.295G>T	ENSP00000338009.5:p.Glu99Ter
ENST00000345378.7:c.1264G>T	ENSP00000223366.2:p.Glu422Ter
ENST00000403799.8:c.1261G>T MANE Select	ENSP00000384247.3:p.Glu421Ter
ENST00000671824.1:c.1324G>T	ENSP00000500264.1:p.Glu442Ter
ENST00000672743.1:n.273G>T
ENST00000673284.1:c.1261G>T	ENSP00000499852.1:p.Glu421Ter
ENST00000336642.8:c.313G>T	ENSP00000338009.4:p.Glu105Ter
ENST00000345378.6:c.1264G>T	ENSP00000223366.2:p.Glu422Ter
ENST00000395796.7:c.1258G>T	ENSP00000379142.3:p.Glu420Ter
ENST00000403799.7:c.1261G>T	ENSP00000384247.3:p.Glu421Ter
ENST00000437084.1:c.1210G>T	ENSP00000402840.1:p.Glu404Ter
ENST00000459642.1:n.641G>T
ENST00000616242.4:c.1258G>T	ENSP00000482149.1:p.Glu420Ter
NM_000162.3:c.1261G>T	NP_000153.1:p.Glu421Ter
NM_033507.1:c.1264G>T	NP_277042.1:p.Glu422Ter
NM_033508.1:c.1258G>T	NP_277043.1:p.Glu420Ter
NM_000162.4:c.1261G>T	NP_000153.1:p.Glu421Ter
NM_001354800.1:c.1261G>T	NP_001341729.1:p.Glu421Ter
NM_001354801.1:c.250G>T	NP_001341730.1:p.Glu84Ter
NM_001354802.1:c.121G>T	NP_001341731.1:p.Glu41Ter
NM_001354803.1:c.295G>T	NP_001341732.1:p.Glu99Ter
NM_033507.2:c.1264G>T	NP_277042.1:p.Glu422Ter
NM_033508.2:c.1258G>T	NP_277043.1:p.Glu420Ter
XM_024446707.1:c.121G>T	XP_024302475.1:p.Glu41Ter
NM_000162.5:c.1261G>T MANE Select	NP_000153.1:p.Glu421Ter
NM_033507.3:c.1264G>T	NP_277042.1:p.Glu422Ter
NM_033508.3:c.1258G>T	NP_277043.1:p.Glu420Ter
NM_001354803.2:c.295G>T	NP_001341732.1:p.Glu99Ter