Canonical Allele Identifier: CA367401623
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 546099
ClinVar RCV Id: RCV000657902 RCV002343405
dbSNP Id: rs1554335444
gnomAD v4: 7-44150008-A-C
MyVariant Identifiers: chr7:g.44189607A>C (hg19) chr7:g.44150008A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150008A>C , CM000669.2:g.44150008A>C GRCh38
NC_000007.13:g.44189607A>C , CM000669.1:g.44189607A>C GRCh37
NC_000007.12:g.44156132A>C NCBI36
NG_008847.1:g.44416T>G
NG_008847.2:g.53163T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*538T>G ENSP00000379142.4:n.*538T>G
ENST00000616242.5:c.540T>G ENSP00000482149.2:p.Asn180Lys
ENST00000682635.1:n.1026T>G
ENST00000345378.7:c.543T>G ENSP00000223366.2:p.Asn181Lys
ENST00000403799.8:c.540T>G MANE Select ENSP00000384247.3:p.Asn180Lys
ENST00000671824.1:c.540T>G ENSP00000500264.1:p.Asn180Lys
ENST00000673284.1:c.540T>G ENSP00000499852.1:p.Asn180Lys
ENST00000345378.6:c.543T>G ENSP00000223366.2:p.Asn181Lys
ENST00000395796.7:c.537T>G ENSP00000379142.3:p.Asn179Lys
ENST00000403799.7:c.540T>G ENSP00000384247.3:p.Asn180Lys
ENST00000437084.1:c.489T>G ENSP00000402840.1:p.Asn163Lys
ENST00000616242.4:c.537T>G ENSP00000482149.1:p.Asn179Lys
NM_000162.3:c.540T>G NP_000153.1:p.Asn180Lys
NM_033507.1:c.543T>G NP_277042.1:p.Asn181Lys
NM_033508.1:c.537T>G NP_277043.1:p.Asn179Lys
NM_000162.4:c.540T>G NP_000153.1:p.Asn180Lys
NM_001354800.1:c.540T>G NP_001341729.1:p.Asn180Lys
NM_033507.2:c.543T>G NP_277042.1:p.Asn181Lys
NM_033508.2:c.537T>G NP_277043.1:p.Asn179Lys
NM_000162.5:c.540T>G MANE Select NP_000153.1:p.Asn180Lys
NM_033507.3:c.543T>G NP_277042.1:p.Asn181Lys
NM_033508.3:c.537T>G NP_277043.1:p.Asn179Lys
Search 100 bp 5'
Search 100 bp 3'