Canonical Allele Identifier: CA367403278
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585917
dbSNP Id: rs1444739794
gnomAD v2: 7-44192923-A-G
gnomAD v4: 7-44153324-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153324A>G , CM000669.2:g.44153324A>G GRCh38
NC_000007.13:g.44192923A>G , CM000669.1:g.44192923A>G GRCh37
NC_000007.12:g.44159448A>G NCBI36
NG_008847.1:g.41100T>C
NG_008847.2:g.49847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*183T>C ENSP00000379142.4:n.*183T>C
ENST00000616242.5:c.185T>C ENSP00000482149.2:p.Val62Ala
ENST00000682635.1:n.671T>C
ENST00000345378.7:c.188T>C ENSP00000223366.2:p.Val63Ala
ENST00000403799.8:c.185T>C MANE Select ENSP00000384247.3:p.Val62Ala
ENST00000671824.1:c.185T>C ENSP00000500264.1:p.Val62Ala
ENST00000673284.1:c.185T>C ENSP00000499852.1:p.Val62Ala
ENST00000345378.6:c.188T>C ENSP00000223366.2:p.Val63Ala
ENST00000395796.7:c.182T>C ENSP00000379142.3:p.Val61Ala
ENST00000403799.7:c.185T>C ENSP00000384247.3:p.Val62Ala
ENST00000437084.1:c.185T>C ENSP00000402840.1:p.Val62Ala
ENST00000616242.4:c.182T>C ENSP00000482149.1:p.Val61Ala
NM_000162.3:c.185T>C NP_000153.1:p.Val62Ala
NM_033507.1:c.188T>C NP_277042.1:p.Val63Ala
NM_033508.1:c.182T>C NP_277043.1:p.Val61Ala
NM_000162.4:c.185T>C NP_000153.1:p.Val62Ala
NM_001354800.1:c.185T>C NP_001341729.1:p.Val62Ala
NM_033507.2:c.188T>C NP_277042.1:p.Val63Ala
NM_033508.2:c.182T>C NP_277043.1:p.Val61Ala
NM_000162.5:c.185T>C MANE Select NP_000153.1:p.Val62Ala
NM_033507.3:c.188T>C NP_277042.1:p.Val63Ala
NM_033508.3:c.182T>C NP_277043.1:p.Val61Ala