Canonical Allele Identifier: CA126212
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 16136
ClinVar RCV Id: RCV000017516 RCV001288185
dbSNP Id: rs104894009
MyVariant Identifiers: chr7:g.44186186C>G (hg19) chr7:g.44146587C>G (hg38)
PubMed: PMID:1303265
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146587C>G , CM000669.2:g.44146587C>G GRCh38
NC_000007.13:g.44186186C>G , CM000669.1:g.44186186C>G GRCh37
NC_000007.12:g.44152711C>G NCBI36
NG_008847.1:g.47837G>C
NG_008847.2:g.56584G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*893G>C ENSP00000379142.4:n.*893G>C
ENST00000616242.5:c.*15G>C ENSP00000482149.2:n.*15G>C
ENST00000683378.1:n.121G>C
ENST00000345378.7:c.898G>C ENSP00000223366.2:p.Gly300Arg
ENST00000403799.8:c.895G>C MANE Select ENSP00000384247.3:p.Gly299Arg
ENST00000671824.1:c.958G>C ENSP00000500264.1:p.Gly320Arg
ENST00000673284.1:c.895G>C ENSP00000499852.1:p.Gly299Arg
ENST00000345378.6:c.898G>C ENSP00000223366.2:p.Gly300Arg
ENST00000395796.7:c.892G>C ENSP00000379142.3:p.Gly298Arg
ENST00000403799.7:c.895G>C ENSP00000384247.3:p.Gly299Arg
ENST00000437084.1:c.844G>C ENSP00000402840.1:p.Gly282Arg
ENST00000473353.1:n.193G>C
ENST00000616242.4:c.892G>C ENSP00000482149.1:p.Gly298Arg
NM_000162.3:c.895G>C NP_000153.1:p.Gly299Arg
NM_033507.1:c.898G>C NP_277042.1:p.Gly300Arg
NM_033508.1:c.892G>C NP_277043.1:p.Gly298Arg
NM_000162.4:c.895G>C NP_000153.1:p.Gly299Arg
NM_001354800.1:c.895G>C NP_001341729.1:p.Gly299Arg
NM_001354801.1:c.8+32G>C NP_001341730.1:n.8+32G>C
NM_033507.2:c.898G>C NP_277042.1:p.Gly300Arg
NM_033508.2:c.892G>C NP_277043.1:p.Gly298Arg
NM_000162.5:c.895G>C MANE Select NP_000153.1:p.Gly299Arg
NM_033507.3:c.898G>C NP_277042.1:p.Gly300Arg
NM_033508.3:c.892G>C NP_277043.1:p.Gly298Arg
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