Canonical Allele Identifier: CA367397114
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571654
ClinVar RCV Id: RCV003313364
gnomAD v4: 7-44145232-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145232G>T , CM000669.2:g.44145232G>T GRCh38
NC_000007.13:g.44184831G>T , CM000669.1:g.44184831G>T GRCh37
NC_000007.12:g.44151356G>T NCBI36
NG_008847.1:g.49192C>A
NG_008847.2:g.57939C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1300C>A ENSP00000379142.4:n.*1300C>A
ENST00000616242.5:c.*422C>A ENSP00000482149.2:n.*422C>A
ENST00000683378.1:n.528C>A
ENST00000336642.9:c.336C>A ENSP00000338009.5:p.Cys112Ter
ENST00000345378.7:c.1305C>A ENSP00000223366.2:p.Cys435Ter
ENST00000403799.8:c.1302C>A MANE Select ENSP00000384247.3:p.Cys434Ter
ENST00000671824.1:c.1365C>A ENSP00000500264.1:p.Cys455Ter
ENST00000672743.1:n.314C>A
ENST00000673284.1:c.1302C>A ENSP00000499852.1:p.Cys434Ter
ENST00000336642.8:c.354C>A ENSP00000338009.4:p.Cys118Ter
ENST00000345378.6:c.1305C>A ENSP00000223366.2:p.Cys435Ter
ENST00000395796.7:c.1299C>A ENSP00000379142.3:p.Cys433Ter
ENST00000403799.7:c.1302C>A ENSP00000384247.3:p.Cys434Ter
ENST00000437084.1:c.1251C>A ENSP00000402840.1:p.Cys417Ter
ENST00000459642.1:n.682C>A
ENST00000616242.4:c.1299C>A ENSP00000482149.1:p.Cys433Ter
NM_000162.3:c.1302C>A NP_000153.1:p.Cys434Ter
NM_033507.1:c.1305C>A NP_277042.1:p.Cys435Ter
NM_033508.1:c.1299C>A NP_277043.1:p.Cys433Ter
NM_000162.4:c.1302C>A NP_000153.1:p.Cys434Ter
NM_001354800.1:c.1302C>A NP_001341729.1:p.Cys434Ter
NM_001354801.1:c.291C>A NP_001341730.1:p.Cys97Ter
NM_001354802.1:c.162C>A NP_001341731.1:p.Cys54Ter
NM_001354803.1:c.336C>A NP_001341732.1:p.Cys112Ter
NM_033507.2:c.1305C>A NP_277042.1:p.Cys435Ter
NM_033508.2:c.1299C>A NP_277043.1:p.Cys433Ter
XM_024446707.1:c.162C>A XP_024302475.1:p.Cys54Ter
NM_000162.5:c.1302C>A MANE Select NP_000153.1:p.Cys434Ter
NM_033507.3:c.1305C>A NP_277042.1:p.Cys435Ter
NM_033508.3:c.1299C>A NP_277043.1:p.Cys433Ter
NM_001354803.2:c.336C>A NP_001341732.1:p.Cys112Ter