Canonical Allele Identifier: CA367398213
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145502-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145502G>T , CM000669.2:g.44145502G>T GRCh38
NC_000007.13:g.44185101G>T , CM000669.1:g.44185101G>T GRCh37
NC_000007.12:g.44151626G>T NCBI36
NG_008847.1:g.48922C>A
NG_008847.2:g.57669C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1246C>A ENSP00000379142.4:n.*1246C>A
ENST00000616242.5:c.*368C>A ENSP00000482149.2:n.*368C>A
ENST00000683378.1:n.474C>A
ENST00000336642.9:c.282C>A ENSP00000338009.5:p.His94Gln
ENST00000345378.7:c.1251C>A ENSP00000223366.2:p.His417Gln
ENST00000403799.8:c.1248C>A MANE Select ENSP00000384247.3:p.His416Gln
ENST00000671824.1:c.1311C>A ENSP00000500264.1:p.His437Gln
ENST00000672743.1:n.260C>A
ENST00000673284.1:c.1248C>A ENSP00000499852.1:p.His416Gln
ENST00000336642.8:c.300C>A ENSP00000338009.4:p.His100Gln
ENST00000345378.6:c.1251C>A ENSP00000223366.2:p.His417Gln
ENST00000395796.7:c.1245C>A ENSP00000379142.3:p.His415Gln
ENST00000403799.7:c.1248C>A ENSP00000384247.3:p.His416Gln
ENST00000437084.1:c.1197C>A ENSP00000402840.1:p.His399Gln
ENST00000459642.1:n.628C>A
ENST00000616242.4:c.1245C>A ENSP00000482149.1:p.His415Gln
NM_000162.3:c.1248C>A NP_000153.1:p.His416Gln
NM_033507.1:c.1251C>A NP_277042.1:p.His417Gln
NM_033508.1:c.1245C>A NP_277043.1:p.His415Gln
NM_000162.4:c.1248C>A NP_000153.1:p.His416Gln
NM_001354800.1:c.1248C>A NP_001341729.1:p.His416Gln
NM_001354801.1:c.237C>A NP_001341730.1:p.His79Gln
NM_001354802.1:c.108C>A NP_001341731.1:p.His36Gln
NM_001354803.1:c.282C>A NP_001341732.1:p.His94Gln
NM_033507.2:c.1251C>A NP_277042.1:p.His417Gln
NM_033508.2:c.1245C>A NP_277043.1:p.His415Gln
XM_024446707.1:c.108C>A XP_024302475.1:p.His36Gln
NM_000162.5:c.1248C>A MANE Select NP_000153.1:p.His416Gln
NM_033507.3:c.1251C>A NP_277042.1:p.His417Gln
NM_033508.3:c.1245C>A NP_277043.1:p.His415Gln
NM_001354803.2:c.282C>A NP_001341732.1:p.His94Gln