Canonical Allele Identifier: CA367399180
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804832
dbSNP Id: rs1583592156
gnomAD v4: 7-44145686-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145686A>G , CM000669.2:g.44145686A>G GRCh38
NC_000007.13:g.44185285A>G , CM000669.1:g.44185285A>G GRCh37
NC_000007.12:g.44151810A>G NCBI36
NG_008847.1:g.48738T>C
NG_008847.2:g.57485T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1062T>C ENSP00000379142.4:n.*1062T>C
ENST00000616242.5:c.*184T>C ENSP00000482149.2:n.*184T>C
ENST00000683378.1:n.290T>C
ENST00000336642.9:c.98T>C ENSP00000338009.5:p.Leu33Pro
ENST00000345378.7:c.1067T>C ENSP00000223366.2:p.Leu356Pro
ENST00000403799.8:c.1064T>C MANE Select ENSP00000384247.3:p.Leu355Pro
ENST00000671824.1:c.1127T>C ENSP00000500264.1:p.Leu376Pro
ENST00000672743.1:n.76T>C
ENST00000673284.1:c.1064T>C ENSP00000499852.1:p.Leu355Pro
ENST00000336642.8:c.116T>C ENSP00000338009.4:p.Leu39Pro
ENST00000345378.6:c.1067T>C ENSP00000223366.2:p.Leu356Pro
ENST00000395796.7:c.1061T>C ENSP00000379142.3:p.Leu354Pro
ENST00000403799.7:c.1064T>C ENSP00000384247.3:p.Leu355Pro
ENST00000437084.1:c.1013T>C ENSP00000402840.1:p.Leu338Pro
ENST00000459642.1:n.444T>C
ENST00000473353.1:n.362T>C
ENST00000616242.4:c.1061T>C ENSP00000482149.1:p.Leu354Pro
NM_000162.3:c.1064T>C NP_000153.1:p.Leu355Pro
NM_033507.1:c.1067T>C NP_277042.1:p.Leu356Pro
NM_033508.1:c.1061T>C NP_277043.1:p.Leu354Pro
NM_000162.4:c.1064T>C NP_000153.1:p.Leu355Pro
NM_001354800.1:c.1064T>C NP_001341729.1:p.Leu355Pro
NM_001354801.1:c.53T>C NP_001341730.1:p.Leu18Pro
NM_001354802.1:c.-77T>C NP_001341731.1:n.-77T>C
NM_001354803.1:c.98T>C NP_001341732.1:p.Leu33Pro
NM_033507.2:c.1067T>C NP_277042.1:p.Leu356Pro
NM_033508.2:c.1061T>C NP_277043.1:p.Leu354Pro
XM_024446707.1:c.-77T>C XP_024302475.1:n.-77T>C
NM_000162.5:c.1064T>C MANE Select NP_000153.1:p.Leu355Pro
NM_033507.3:c.1067T>C NP_277042.1:p.Leu356Pro
NM_033508.3:c.1061T>C NP_277043.1:p.Leu354Pro
NM_001354803.2:c.98T>C NP_001341732.1:p.Leu33Pro