Canonical Allele Identifier: CA367398721
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804836
dbSNP Id: rs1583591747
gnomAD v4: 7-44145599-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145599G>A , CM000669.2:g.44145599G>A GRCh38
NC_000007.13:g.44185198G>A , CM000669.1:g.44185198G>A GRCh37
NC_000007.12:g.44151723G>A NCBI36
NG_008847.1:g.48825C>T
NG_008847.2:g.57572C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1149C>T ENSP00000379142.4:n.*1149C>T
ENST00000616242.5:c.*271C>T ENSP00000482149.2:n.*271C>T
ENST00000683378.1:n.377C>T
ENST00000336642.9:c.185C>T ENSP00000338009.5:p.Ala62Val
ENST00000345378.7:c.1154C>T ENSP00000223366.2:p.Ala385Val
ENST00000403799.8:c.1151C>T MANE Select ENSP00000384247.3:p.Ala384Val
ENST00000671824.1:c.1214C>T ENSP00000500264.1:p.Ala405Val
ENST00000672743.1:n.163C>T
ENST00000673284.1:c.1151C>T ENSP00000499852.1:p.Ala384Val
ENST00000336642.8:c.203C>T ENSP00000338009.4:p.Ala68Val
ENST00000345378.6:c.1154C>T ENSP00000223366.2:p.Ala385Val
ENST00000395796.7:c.1148C>T ENSP00000379142.3:p.Ala383Val
ENST00000403799.7:c.1151C>T ENSP00000384247.3:p.Ala384Val
ENST00000437084.1:c.1100C>T ENSP00000402840.1:p.Ala367Val
ENST00000459642.1:n.531C>T
ENST00000616242.4:c.1148C>T ENSP00000482149.1:p.Ala383Val
NM_000162.3:c.1151C>T NP_000153.1:p.Ala384Val
NM_033507.1:c.1154C>T NP_277042.1:p.Ala385Val
NM_033508.1:c.1148C>T NP_277043.1:p.Ala383Val
NM_000162.4:c.1151C>T NP_000153.1:p.Ala384Val
NM_001354800.1:c.1151C>T NP_001341729.1:p.Ala384Val
NM_001354801.1:c.140C>T NP_001341730.1:p.Ala47Val
NM_001354802.1:c.11C>T NP_001341731.1:p.Ala4Val
NM_001354803.1:c.185C>T NP_001341732.1:p.Ala62Val
NM_033507.2:c.1154C>T NP_277042.1:p.Ala385Val
NM_033508.2:c.1148C>T NP_277043.1:p.Ala383Val
XM_024446707.1:c.11C>T XP_024302475.1:p.Ala4Val
NM_000162.5:c.1151C>T MANE Select NP_000153.1:p.Ala384Val
NM_033507.3:c.1154C>T NP_277042.1:p.Ala385Val
NM_033508.3:c.1148C>T NP_277043.1:p.Ala383Val
NM_001354803.2:c.185C>T NP_001341732.1:p.Ala62Val