Canonical Allele Identifier: CA367397199

Gene: GCK

Linked Data

• ClinVar Variation Id: 585912
• ClinVar RCV Id: RCV000711762 ; RCV002463456 ; RCV004527395
• dbSNP Id: rs1562712097
• MyVariant Identifiers: chr7:g.44184853A>C (hg19) ; chr7:g.44145254A>C (hg38)
• ERepo: CA367397199/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145254A>C , CM000669.2:g.44145254A>C	GRCh38
NC_000007.13:g.44184853A>C , CM000669.1:g.44184853A>C	GRCh37
NC_000007.12:g.44151378A>C	NCBI36
NG_008847.1:g.49170T>G
NG_008847.2:g.57917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1278T>G	ENSP00000379142.4:n.*1278T>G
ENST00000616242.5:c.*400T>G	ENSP00000482149.2:n.*400T>G
ENST00000683378.1:n.506T>G
ENST00000336642.9:c.314T>G	ENSP00000338009.5:p.Val105Gly
ENST00000345378.7:c.1283T>G	ENSP00000223366.2:p.Val428Gly
ENST00000403799.8:c.1280T>G MANE Select	ENSP00000384247.3:p.Val427Gly
ENST00000671824.1:c.1343T>G	ENSP00000500264.1:p.Val448Gly
ENST00000672743.1:n.292T>G
ENST00000673284.1:c.1280T>G	ENSP00000499852.1:p.Val427Gly
ENST00000336642.8:c.332T>G	ENSP00000338009.4:p.Val111Gly
ENST00000345378.6:c.1283T>G	ENSP00000223366.2:p.Val428Gly
ENST00000395796.7:c.1277T>G	ENSP00000379142.3:p.Val426Gly
ENST00000403799.7:c.1280T>G	ENSP00000384247.3:p.Val427Gly
ENST00000437084.1:c.1229T>G	ENSP00000402840.1:p.Val410Gly
ENST00000459642.1:n.660T>G
ENST00000616242.4:c.1277T>G	ENSP00000482149.1:p.Val426Gly
NM_000162.3:c.1280T>G	NP_000153.1:p.Val427Gly
NM_033507.1:c.1283T>G	NP_277042.1:p.Val428Gly
NM_033508.1:c.1277T>G	NP_277043.1:p.Val426Gly
NM_000162.4:c.1280T>G	NP_000153.1:p.Val427Gly
NM_001354800.1:c.1280T>G	NP_001341729.1:p.Val427Gly
NM_001354801.1:c.269T>G	NP_001341730.1:p.Val90Gly
NM_001354802.1:c.140T>G	NP_001341731.1:p.Val47Gly
NM_001354803.1:c.314T>G	NP_001341732.1:p.Val105Gly
NM_033507.2:c.1283T>G	NP_277042.1:p.Val428Gly
NM_033508.2:c.1277T>G	NP_277043.1:p.Val426Gly
XM_024446707.1:c.140T>G	XP_024302475.1:p.Val47Gly
NM_000162.5:c.1280T>G MANE Select	NP_000153.1:p.Val427Gly
NM_033507.3:c.1283T>G	NP_277042.1:p.Val428Gly
NM_033508.3:c.1277T>G	NP_277043.1:p.Val426Gly
NM_001354803.2:c.314T>G	NP_001341732.1:p.Val105Gly