Canonical Allele Identifier: CA130526

Gene: GCK

Linked Data

• ClinVar Variation Id: 39759
• ClinVar RCV Id: RCV000032978 ; RCV003883126
• dbSNP Id: rs397514580
• gnomAD v4: 7-44146467-C-T
• MyVariant Identifiers: chr7:g.44186066C>T (hg19) ; chr7:g.44146467C>T (hg38)
• PubMed: PMID:21104275
• ERepo: CA130526/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146467C>T , CM000669.2:g.44146467C>T	GRCh38
NC_000007.13:g.44186066C>T , CM000669.1:g.44186066C>T	GRCh37
NC_000007.12:g.44152591C>T	NCBI36
NG_008847.1:g.47957G>A
NG_008847.2:g.56704G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1013G>A	ENSP00000379142.4:n.*1013G>A
ENST00000616242.5:c.*135G>A	ENSP00000482149.2:n.*135G>A
ENST00000683378.1:n.241G>A
ENST00000345378.7:c.1018G>A	ENSP00000223366.2:p.Glu340Lys
ENST00000403799.8:c.1015G>A MANE Select	ENSP00000384247.3:p.Glu339Lys
ENST00000671824.1:c.1078G>A	ENSP00000500264.1:p.Glu360Lys
ENST00000673284.1:c.1015G>A	ENSP00000499852.1:p.Glu339Lys
ENST00000345378.6:c.1018G>A	ENSP00000223366.2:p.Glu340Lys
ENST00000395796.7:c.1012G>A	ENSP00000379142.3:p.Glu338Lys
ENST00000403799.7:c.1015G>A	ENSP00000384247.3:p.Glu339Lys
ENST00000437084.1:c.964G>A	ENSP00000402840.1:p.Glu322Lys
ENST00000473353.1:n.313G>A
ENST00000616242.4:c.1012G>A	ENSP00000482149.1:p.Glu338Lys
NM_000162.3:c.1015G>A	NP_000153.1:p.Glu339Lys
NM_033507.1:c.1018G>A	NP_277042.1:p.Glu340Lys
NM_033508.1:c.1012G>A	NP_277043.1:p.Glu338Lys
NM_000162.4:c.1015G>A	NP_000153.1:p.Glu339Lys
NM_001354800.1:c.1015G>A	NP_001341729.1:p.Glu339Lys
NM_001354801.1:c.8+152G>A	NP_001341730.1:n.8+152G>A
NM_033507.2:c.1018G>A	NP_277042.1:p.Glu340Lys
NM_033508.2:c.1012G>A	NP_277043.1:p.Glu338Lys
NM_000162.5:c.1015G>A MANE Select	NP_000153.1:p.Glu339Lys
NM_033507.3:c.1018G>A	NP_277042.1:p.Glu340Lys
NM_033508.3:c.1012G>A	NP_277043.1:p.Glu338Lys