Canonical Allele Identifier: CA367398533
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 995102
dbSNP Id: rs193929375
gnomAD v4: 7-44145560-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145560C>T , CM000669.2:g.44145560C>T GRCh38
NC_000007.13:g.44185159C>T , CM000669.1:g.44185159C>T GRCh37
NC_000007.12:g.44151684C>T NCBI36
NG_008847.1:g.48864G>A
NG_008847.2:g.57611G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1188G>A ENSP00000379142.4:n.*1188G>A
ENST00000616242.5:c.*310G>A ENSP00000482149.2:n.*310G>A
ENST00000683378.1:n.416G>A
ENST00000336642.9:c.224G>A ENSP00000338009.5:p.Arg75His
ENST00000345378.7:c.1193G>A ENSP00000223366.2:p.Arg398His
ENST00000403799.8:c.1190G>A MANE Select ENSP00000384247.3:p.Arg397His
ENST00000671824.1:c.1253G>A ENSP00000500264.1:p.Arg418His
ENST00000672743.1:n.202G>A
ENST00000673284.1:c.1190G>A ENSP00000499852.1:p.Arg397His
ENST00000336642.8:c.242G>A ENSP00000338009.4:p.Arg81His
ENST00000345378.6:c.1193G>A ENSP00000223366.2:p.Arg398His
ENST00000395796.7:c.1187G>A ENSP00000379142.3:p.Arg396His
ENST00000403799.7:c.1190G>A ENSP00000384247.3:p.Arg397His
ENST00000437084.1:c.1139G>A ENSP00000402840.1:p.Arg380His
ENST00000459642.1:n.570G>A
ENST00000616242.4:c.1187G>A ENSP00000482149.1:p.Arg396His
NM_000162.3:c.1190G>A NP_000153.1:p.Arg397His
NM_033507.1:c.1193G>A NP_277042.1:p.Arg398His
NM_033508.1:c.1187G>A NP_277043.1:p.Arg396His
NM_000162.4:c.1190G>A NP_000153.1:p.Arg397His
NM_001354800.1:c.1190G>A NP_001341729.1:p.Arg397His
NM_001354801.1:c.179G>A NP_001341730.1:p.Arg60His
NM_001354802.1:c.50G>A NP_001341731.1:p.Arg17His
NM_001354803.1:c.224G>A NP_001341732.1:p.Arg75His
NM_033507.2:c.1193G>A NP_277042.1:p.Arg398His
NM_033508.2:c.1187G>A NP_277043.1:p.Arg396His
XM_024446707.1:c.50G>A XP_024302475.1:p.Arg17His
NM_000162.5:c.1190G>A MANE Select NP_000153.1:p.Arg397His
NM_033507.3:c.1193G>A NP_277042.1:p.Arg398His
NM_033508.3:c.1187G>A NP_277043.1:p.Arg396His
NM_001354803.2:c.224G>A NP_001341732.1:p.Arg75His