Canonical Allele Identifier: CA367397019

Gene: GCK

Linked Data

• ClinVar Variation Id: 2581124
• ClinVar RCV Id: RCV003330366
• gnomAD v4: 7-44145212-G-T
• MyVariant Identifiers: chr7:g.44184811G>T (hg19) ; chr7:g.44145212G>T (hg38)
• ERepo: CA367397019/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145212G>T , CM000669.2:g.44145212G>T	GRCh38
NC_000007.13:g.44184811G>T , CM000669.1:g.44184811G>T	GRCh37
NC_000007.12:g.44151336G>T	NCBI36
NG_008847.1:g.49212C>A
NG_008847.2:g.57959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1320C>A	ENSP00000379142.4:n.*1320C>A
ENST00000616242.5:c.*442C>A	ENSP00000482149.2:n.*442C>A
ENST00000683378.1:n.548C>A
ENST00000336642.9:c.356C>A	ENSP00000338009.5:p.Ser119Ter
ENST00000345378.7:c.1325C>A	ENSP00000223366.2:p.Ser442Ter
ENST00000403799.8:c.1322C>A MANE Select	ENSP00000384247.3:p.Ser441Ter
ENST00000671824.1:c.1385C>A	ENSP00000500264.1:p.Ser462Ter
ENST00000672743.1:n.334C>A
ENST00000673284.1:c.1322C>A	ENSP00000499852.1:p.Ser441Ter
ENST00000336642.8:c.374C>A	ENSP00000338009.4:p.Ser125Ter
ENST00000345378.6:c.1325C>A	ENSP00000223366.2:p.Ser442Ter
ENST00000395796.7:c.1319C>A	ENSP00000379142.3:p.Ser440Ter
ENST00000403799.7:c.1322C>A	ENSP00000384247.3:p.Ser441Ter
ENST00000437084.1:c.1271C>A	ENSP00000402840.1:p.Ser424Ter
ENST00000459642.1:n.702C>A
ENST00000616242.4:c.1319C>A	ENSP00000482149.1:p.Ser440Ter
NM_000162.3:c.1322C>A	NP_000153.1:p.Ser441Ter
NM_033507.1:c.1325C>A	NP_277042.1:p.Ser442Ter
NM_033508.1:c.1319C>A	NP_277043.1:p.Ser440Ter
NM_000162.4:c.1322C>A	NP_000153.1:p.Ser441Ter
NM_001354800.1:c.1322C>A	NP_001341729.1:p.Ser441Ter
NM_001354801.1:c.311C>A	NP_001341730.1:p.Ser104Ter
NM_001354802.1:c.182C>A	NP_001341731.1:p.Ser61Ter
NM_001354803.1:c.356C>A	NP_001341732.1:p.Ser119Ter
NM_033507.2:c.1325C>A	NP_277042.1:p.Ser442Ter
NM_033508.2:c.1319C>A	NP_277043.1:p.Ser440Ter
XM_024446707.1:c.182C>A	XP_024302475.1:p.Ser61Ter
NM_000162.5:c.1322C>A MANE Select	NP_000153.1:p.Ser441Ter
NM_033507.3:c.1325C>A	NP_277042.1:p.Ser442Ter
NM_033508.3:c.1319C>A	NP_277043.1:p.Ser440Ter
NM_001354803.2:c.356C>A	NP_001341732.1:p.Ser119Ter