Canonical Allele Identifier: CA367401909
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1700679
ClinVar RCV Id: RCV002285557
gnomAD v4: 7-44150978-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150978A>G , CM000669.2:g.44150978A>G GRCh38
NC_000007.13:g.44190577A>G , CM000669.1:g.44190577A>G GRCh37
NC_000007.12:g.44157102A>G NCBI36
NG_008847.1:g.43446T>C
NG_008847.2:g.52193T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*459T>C ENSP00000379142.4:n.*459T>C
ENST00000616242.5:c.461T>C ENSP00000482149.2:p.Val154Ala
ENST00000682635.1:n.947T>C
ENST00000345378.7:c.464T>C ENSP00000223366.2:p.Val155Ala
ENST00000403799.8:c.461T>C MANE Select ENSP00000384247.3:p.Val154Ala
ENST00000671824.1:c.461T>C ENSP00000500264.1:p.Val154Ala
ENST00000673284.1:c.461T>C ENSP00000499852.1:p.Val154Ala
ENST00000345378.6:c.464T>C ENSP00000223366.2:p.Val155Ala
ENST00000395796.7:c.458T>C ENSP00000379142.3:p.Val153Ala
ENST00000403799.7:c.461T>C ENSP00000384247.3:p.Val154Ala
ENST00000437084.1:c.410T>C ENSP00000402840.1:p.Val137Ala
ENST00000616242.4:c.458T>C ENSP00000482149.1:p.Val153Ala
NM_000162.3:c.461T>C NP_000153.1:p.Val154Ala
NM_033507.1:c.464T>C NP_277042.1:p.Val155Ala
NM_033508.1:c.458T>C NP_277043.1:p.Val153Ala
NM_000162.4:c.461T>C NP_000153.1:p.Val154Ala
NM_001354800.1:c.461T>C NP_001341729.1:p.Val154Ala
NM_033507.2:c.464T>C NP_277042.1:p.Val155Ala
NM_033508.2:c.458T>C NP_277043.1:p.Val153Ala
NM_000162.5:c.461T>C MANE Select NP_000153.1:p.Val154Ala
NM_033507.3:c.464T>C NP_277042.1:p.Val155Ala
NM_033508.3:c.458T>C NP_277043.1:p.Val153Ala