Canonical Allele Identifier: CA367396716

Gene: GCK

Linked Data

• ClinVar Variation Id: 2578350
• ClinVar RCV Id: RCV003326076
• MyVariant Identifiers: chr7:g.44184735T>C (hg19) ; chr7:g.44145136T>C (hg38)
• ERepo: CA367396716/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145136T>C , CM000669.2:g.44145136T>C	GRCh38
NC_000007.13:g.44184735T>C , CM000669.1:g.44184735T>C	GRCh37
NC_000007.12:g.44151260T>C	NCBI36
NG_008847.1:g.49288A>G
NG_008847.2:g.58035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1396A>G	ENSP00000379142.4:n.*1396A>G
ENST00000616242.5:c.*518A>G	ENSP00000482149.2:n.*518A>G
ENST00000683378.1:n.624A>G
ENST00000336642.9:c.432A>G	ENSP00000338009.5:p.Ter144Trp
ENST00000345378.7:c.1401A>G	ENSP00000223366.2:p.Ter467Trp
ENST00000403799.8:c.1398A>G MANE Select	ENSP00000384247.3:p.Ter466Trp
ENST00000671824.1:c.1461A>G	ENSP00000500264.1:p.Ter487Trp
ENST00000672743.1:n.381+29A>G
ENST00000673284.1:c.1369+29A>G	ENSP00000499852.1:n.1369+29A>G
ENST00000336642.8:c.450A>G	ENSP00000338009.4:p.Ter150Trp
ENST00000345378.6:c.1401A>G	ENSP00000223366.2:p.Ter467Trp
ENST00000395796.7:c.1395A>G	ENSP00000379142.3:p.Ter465Trp
ENST00000403799.7:c.1398A>G	ENSP00000384247.3:p.Ter466Trp
ENST00000437084.1:c.1347A>G	ENSP00000402840.1:p.Ter449Trp
ENST00000459642.1:n.778A>G
ENST00000616242.4:c.1395A>G	ENSP00000482149.1:p.Ter465Trp
NM_000162.3:c.1398A>G	NP_000153.1:p.Ter466Trp
NM_033507.1:c.1401A>G	NP_277042.1:p.Ter467Trp
NM_033508.1:c.1395A>G	NP_277043.1:p.Ter465Trp
NM_000162.4:c.1398A>G	NP_000153.1:p.Ter466Trp
NM_001354800.1:c.1369+29A>G	NP_001341729.1:n.1369+29A>G
NM_001354801.1:c.387A>G	NP_001341730.1:p.Ter129Trp
NM_001354802.1:c.229+29A>G	NP_001341731.1:n.229+29A>G
NM_001354803.1:c.432A>G	NP_001341732.1:p.Ter144Trp
NM_033507.2:c.1401A>G	NP_277042.1:p.Ter467Trp
NM_033508.2:c.1395A>G	NP_277043.1:p.Ter465Trp
XM_024446707.1:c.258A>G	XP_024302475.1:p.Ter86Trp
NM_000162.5:c.1398A>G MANE Select	NP_000153.1:p.Ter466Trp
NM_033507.3:c.1401A>G	NP_277042.1:p.Ter467Trp
NM_033508.3:c.1395A>G	NP_277043.1:p.Ter465Trp
NM_001354803.2:c.432A>G	NP_001341732.1:p.Ter144Trp