Canonical Allele Identifier: CA213735
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36186
ClinVar RCV Id: RCV000029849 RCV002463996
dbSNP Id: rs193922270
gnomAD v4: 7-44153392-C-T
MyVariant Identifiers: chr7:g.44192991C>T (hg19) chr7:g.44153392C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153392C>T , CM000669.2:g.44153392C>T GRCh38
NC_000007.13:g.44192991C>T , CM000669.1:g.44192991C>T GRCh37
NC_000007.12:g.44159516C>T NCBI36
NG_008847.1:g.41032G>A
NG_008847.2:g.49779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*115G>A ENSP00000379142.4:n.*115G>A
ENST00000616242.5:c.117G>A ENSP00000482149.2:p.Lys39=
ENST00000682635.1:n.603G>A
ENST00000345378.7:c.120G>A ENSP00000223366.2:p.Lys40=
ENST00000403799.8:c.117G>A MANE Select ENSP00000384247.3:p.Lys39=
ENST00000671824.1:c.117G>A ENSP00000500264.1:p.Lys39=
ENST00000673284.1:c.117G>A ENSP00000499852.1:p.Lys39=
ENST00000345378.6:c.120G>A ENSP00000223366.2:p.Lys40=
ENST00000395796.7:c.114G>A ENSP00000379142.3:p.Lys38=
ENST00000403799.7:c.117G>A ENSP00000384247.3:p.Lys39=
ENST00000437084.1:c.117G>A ENSP00000402840.1:p.Lys39=
ENST00000476008.1:n.552G>A
ENST00000616242.4:c.114G>A ENSP00000482149.1:p.Lys38=
NM_000162.3:c.117G>A NP_000153.1:p.Lys39=
NM_033507.1:c.120G>A NP_277042.1:p.Lys40=
NM_033508.1:c.114G>A NP_277043.1:p.Lys38=
NM_000162.4:c.117G>A NP_000153.1:p.Lys39=
NM_001354800.1:c.117G>A NP_001341729.1:p.Lys39=
NM_033507.2:c.120G>A NP_277042.1:p.Lys40=
NM_033508.2:c.114G>A NP_277043.1:p.Lys38=
NM_000162.5:c.117G>A MANE Select NP_000153.1:p.Lys39=
NM_033507.3:c.120G>A NP_277042.1:p.Lys40=
NM_033508.3:c.114G>A NP_277043.1:p.Lys38=
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