Canonical Allele Identifier: CA838780390
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1262826726
gnomAD v3: 7-44149651-A-G
gnomAD v4: 7-44149651-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149651A>G , CM000669.2:g.44149651A>G GRCh38
NC_000007.13:g.44189250A>G , CM000669.1:g.44189250A>G GRCh37
NC_000007.12:g.44155775A>G NCBI36
NG_008847.1:g.44773T>C
NG_008847.2:g.53520T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*677+109T>C ENSP00000379142.4:n.*677+109T>C
ENST00000616242.5:c.679+109T>C ENSP00000482149.2:n.679+109T>C
ENST00000682635.1:n.1274T>C
ENST00000345378.7:c.682+109T>C ENSP00000223366.2:n.682+109T>C
ENST00000403799.8:c.679+109T>C MANE Select ENSP00000384247.3:n.679+109T>C
ENST00000671824.1:c.679+109T>C ENSP00000500264.1:n.679+109T>C
ENST00000673284.1:c.679+109T>C ENSP00000499852.1:n.679+109T>C
ENST00000345378.6:c.682+109T>C ENSP00000223366.2:n.682+109T>C
ENST00000395796.7:c.676+109T>C ENSP00000379142.3:n.676+109T>C
ENST00000403799.7:c.679+109T>C ENSP00000384247.3:n.679+109T>C
ENST00000437084.1:c.628+109T>C ENSP00000402840.1:n.628+109T>C
ENST00000616242.4:c.676+109T>C ENSP00000482149.1:n.676+109T>C
NM_000162.3:c.679+109T>C NP_000153.1:n.679+109T>C
NM_033507.1:c.682+109T>C NP_277042.1:n.682+109T>C
NM_033508.1:c.676+109T>C NP_277043.1:n.676+109T>C
XR_927223.1:n.204-38A>G
NM_000162.4:c.679+109T>C NP_000153.1:n.679+109T>C
NM_001354800.1:c.679+109T>C NP_001341729.1:n.679+109T>C
NM_033507.2:c.682+109T>C NP_277042.1:n.682+109T>C
NM_033508.2:c.676+109T>C NP_277043.1:n.676+109T>C
XR_927223.2:n.204-38A>G
NM_000162.5:c.679+109T>C MANE Select NP_000153.1:n.679+109T>C
NM_033507.3:c.682+109T>C NP_277042.1:n.682+109T>C
NM_033508.3:c.676+109T>C NP_277043.1:n.676+109T>C