Canonical Allele Identifier: CA367400587
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804857
ClinVar RCV Id: RCV000992063
dbSNP Id: rs1583596378
MyVariant Identifiers: chr7:g.44187340C>A (hg19) chr7:g.44147741C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*770G>T ENSP00000379142.4:n.*770G>T
ENST00000616242.5:c.772G>T ENSP00000482149.2:p.Gly258Cys
ENST00000345378.7:c.775G>T ENSP00000223366.2:p.Gly259Cys
ENST00000403799.8:c.772G>T MANE Select ENSP00000384247.3:p.Gly258Cys
ENST00000671824.1:c.772G>T ENSP00000500264.1:p.Gly258Cys
ENST00000673284.1:c.772G>T ENSP00000499852.1:p.Gly258Cys
ENST00000345378.6:c.775G>T ENSP00000223366.2:p.Gly259Cys
ENST00000395796.7:c.769G>T ENSP00000379142.3:p.Gly257Cys
ENST00000403799.7:c.772G>T ENSP00000384247.3:p.Gly258Cys
ENST00000437084.1:c.721G>T ENSP00000402840.1:p.Gly241Cys
ENST00000616242.4:c.769G>T ENSP00000482149.1:p.Gly257Cys
NM_000162.3:c.772G>T NP_000153.1:p.Gly258Cys
NM_033507.1:c.775G>T NP_277042.1:p.Gly259Cys
NM_033508.1:c.769G>T NP_277043.1:p.Gly257Cys
XR_927223.1:n.75C>A
NM_000162.4:c.772G>T NP_000153.1:p.Gly258Cys
NM_001354800.1:c.772G>T NP_001341729.1:p.Gly258Cys
NM_033507.2:c.775G>T NP_277042.1:p.Gly259Cys
NM_033508.2:c.769G>T NP_277043.1:p.Gly257Cys
XR_927223.2:n.75C>A
NM_000162.5:c.772G>T MANE Select NP_000153.1:p.Gly258Cys
NM_033507.3:c.775G>T NP_277042.1:p.Gly259Cys
NM_033508.3:c.769G>T NP_277043.1:p.Gly257Cys
Search 100 bp 5'
Search 100 bp 3'