Canonical Allele Identifier: CA213850
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36256
ClinVar RCV Id: RCV000029919 RCV000255007 RCV002326691
dbSNP Id: rs193922329
gnomAD v4: 7-44153433-G-A
MyVariant Identifiers: chr7:g.44193032G>A (hg19) chr7:g.44153433G>A (hg38)
PubMed: PMID:11508276 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153433G>A , CM000669.2:g.44153433G>A GRCh38
NC_000007.13:g.44193032G>A , CM000669.1:g.44193032G>A GRCh37
NC_000007.12:g.44159557G>A NCBI36
NG_008847.1:g.40991C>T
NG_008847.2:g.49738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*74C>T ENSP00000379142.4:n.*74C>T
ENST00000616242.5:c.76C>T ENSP00000482149.2:p.Gln26Ter
ENST00000682635.1:n.562C>T
ENST00000345378.7:c.79C>T ENSP00000223366.2:p.Gln27Ter
ENST00000403799.8:c.76C>T MANE Select ENSP00000384247.3:p.Gln26Ter
ENST00000671824.1:c.76C>T ENSP00000500264.1:p.Gln26Ter
ENST00000673284.1:c.76C>T ENSP00000499852.1:p.Gln26Ter
ENST00000345378.6:c.79C>T ENSP00000223366.2:p.Gln27Ter
ENST00000395796.7:c.73C>T ENSP00000379142.3:p.Gln25Ter
ENST00000403799.7:c.76C>T ENSP00000384247.3:p.Gln26Ter
ENST00000437084.1:c.76C>T ENSP00000402840.1:p.Gln26Ter
ENST00000476008.1:n.511C>T
ENST00000616242.4:c.73C>T ENSP00000482149.1:p.Gln25Ter
NM_000162.3:c.76C>T NP_000153.1:p.Gln26Ter
NM_033507.1:c.79C>T NP_277042.1:p.Gln27Ter
NM_033508.1:c.73C>T NP_277043.1:p.Gln25Ter
NM_000162.4:c.76C>T NP_000153.1:p.Gln26Ter
NM_001354800.1:c.76C>T NP_001341729.1:p.Gln26Ter
NM_033507.2:c.79C>T NP_277042.1:p.Gln27Ter
NM_033508.2:c.73C>T NP_277043.1:p.Gln25Ter
NM_000162.5:c.76C>T MANE Select NP_000153.1:p.Gln26Ter
NM_033507.3:c.79C>T NP_277042.1:p.Gln27Ter
NM_033508.3:c.73C>T NP_277043.1:p.Gln25Ter
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