Canonical Allele Identifier: CA367400589
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 918070
ClinVar RCV Id: RCV001175327 RCV001556494
dbSNP Id: rs1583596378
gnomAD v4: 7-44147741-C-T
MyVariant Identifiers: chr7:g.44187340C>T (hg19) chr7:g.44147741C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147741C>T , CM000669.2:g.44147741C>T GRCh38
NC_000007.13:g.44187340C>T , CM000669.1:g.44187340C>T GRCh37
NC_000007.12:g.44153865C>T NCBI36
NG_008847.1:g.46683G>A
NG_008847.2:g.55430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*770G>A ENSP00000379142.4:n.*770G>A
ENST00000616242.5:c.772G>A ENSP00000482149.2:p.Gly258Ser
ENST00000345378.7:c.775G>A ENSP00000223366.2:p.Gly259Ser
ENST00000403799.8:c.772G>A MANE Select ENSP00000384247.3:p.Gly258Ser
ENST00000671824.1:c.772G>A ENSP00000500264.1:p.Gly258Ser
ENST00000673284.1:c.772G>A ENSP00000499852.1:p.Gly258Ser
ENST00000345378.6:c.775G>A ENSP00000223366.2:p.Gly259Ser
ENST00000395796.7:c.769G>A ENSP00000379142.3:p.Gly257Ser
ENST00000403799.7:c.772G>A ENSP00000384247.3:p.Gly258Ser
ENST00000437084.1:c.721G>A ENSP00000402840.1:p.Gly241Ser
ENST00000616242.4:c.769G>A ENSP00000482149.1:p.Gly257Ser
NM_000162.3:c.772G>A NP_000153.1:p.Gly258Ser
NM_033507.1:c.775G>A NP_277042.1:p.Gly259Ser
NM_033508.1:c.769G>A NP_277043.1:p.Gly257Ser
XR_927223.1:n.75C>T
NM_000162.4:c.772G>A NP_000153.1:p.Gly258Ser
NM_001354800.1:c.772G>A NP_001341729.1:p.Gly258Ser
NM_033507.2:c.775G>A NP_277042.1:p.Gly259Ser
NM_033508.2:c.769G>A NP_277043.1:p.Gly257Ser
XR_927223.2:n.75C>T
NM_000162.5:c.772G>A MANE Select NP_000153.1:p.Gly258Ser
NM_033507.3:c.775G>A NP_277042.1:p.Gly259Ser
NM_033508.3:c.769G>A NP_277043.1:p.Gly257Ser
Search 100 bp 5'
Search 100 bp 3'