Canonical Allele Identifier: CA16609269
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 393452
ClinVar RCV Id: RCV000445383 RCV000754801 RCV001289442 RCV002319498
dbSNP Id: rs1057524905
MyVariant Identifiers: chr7:g.44187433C>T (hg19) chr7:g.44147834C>T (hg38)
PubMed: PMID:14517946 PMID:16965331 PMID:19339519 PMID:19790256
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147834C>T , CM000669.2:g.44147834C>T GRCh38
NC_000007.13:g.44187433C>T , CM000669.1:g.44187433C>T GRCh37
NC_000007.12:g.44153958C>T NCBI36
NG_008847.1:g.46590G>A
NG_008847.2:g.55337G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*678-1G>A ENSP00000379142.4:n.*678-1G>A
ENST00000616242.5:c.680-1G>A ENSP00000482149.2:n.680-1G>A
ENST00000345378.7:c.683-1G>A ENSP00000223366.2:n.683-1G>A
ENST00000403799.8:c.680-1G>A MANE Select ENSP00000384247.3:n.680-1G>A
ENST00000671824.1:c.680-1G>A ENSP00000500264.1:n.680-1G>A
ENST00000673284.1:c.680-1G>A ENSP00000499852.1:n.680-1G>A
ENST00000345378.6:c.683-1G>A ENSP00000223366.2:n.683-1G>A
ENST00000395796.7:c.677-1G>A ENSP00000379142.3:n.677-1G>A
ENST00000403799.7:c.680-1G>A ENSP00000384247.3:n.680-1G>A
ENST00000437084.1:c.629-1G>A ENSP00000402840.1:n.629-1G>A
ENST00000616242.4:c.677-1G>A ENSP00000482149.1:n.677-1G>A
NM_000162.3:c.680-1G>A NP_000153.1:n.680-1G>A
NM_033507.1:c.683-1G>A NP_277042.1:n.683-1G>A
NM_033508.1:c.677-1G>A NP_277043.1:n.677-1G>A
XR_927223.1:n.82+86C>T
NM_000162.4:c.680-1G>A NP_000153.1:n.680-1G>A
NM_001354800.1:c.680-1G>A NP_001341729.1:n.680-1G>A
NM_033507.2:c.683-1G>A NP_277042.1:n.683-1G>A
NM_033508.2:c.677-1G>A NP_277043.1:n.677-1G>A
XR_927223.2:n.82+86C>T
NM_000162.5:c.680-1G>A MANE Select NP_000153.1:n.680-1G>A
NM_033507.3:c.683-1G>A NP_277042.1:n.683-1G>A
NM_033508.3:c.677-1G>A NP_277043.1:n.677-1G>A
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