Canonical Allele Identifier: CA367399309
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145709-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145709C>A , CM000669.2:g.44145709C>A GRCh38
NC_000007.13:g.44185308C>A , CM000669.1:g.44185308C>A GRCh37
NC_000007.12:g.44151833C>A NCBI36
NG_008847.1:g.48715G>T
NG_008847.2:g.57462G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1039G>T ENSP00000379142.4:n.*1039G>T
ENST00000616242.5:c.*161G>T ENSP00000482149.2:n.*161G>T
ENST00000683378.1:n.267G>T
ENST00000336642.9:c.75G>T ENSP00000338009.5:p.Gln25His
ENST00000345378.7:c.1044G>T ENSP00000223366.2:p.Gln348His
ENST00000403799.8:c.1041G>T MANE Select ENSP00000384247.3:p.Gln347His
ENST00000671824.1:c.1104G>T ENSP00000500264.1:p.Gln368His
ENST00000672743.1:n.53G>T
ENST00000673284.1:c.1041G>T ENSP00000499852.1:p.Gln347His
ENST00000336642.8:c.93G>T ENSP00000338009.4:p.Gln31His
ENST00000345378.6:c.1044G>T ENSP00000223366.2:p.Gln348His
ENST00000395796.7:c.1038G>T ENSP00000379142.3:p.Gln346His
ENST00000403799.7:c.1041G>T ENSP00000384247.3:p.Gln347His
ENST00000437084.1:c.990G>T ENSP00000402840.1:p.Gln330His
ENST00000459642.1:n.421G>T
ENST00000473353.1:n.339G>T
ENST00000616242.4:c.1038G>T ENSP00000482149.1:p.Gln346His
NM_000162.3:c.1041G>T NP_000153.1:p.Gln347His
NM_033507.1:c.1044G>T NP_277042.1:p.Gln348His
NM_033508.1:c.1038G>T NP_277043.1:p.Gln346His
NM_000162.4:c.1041G>T NP_000153.1:p.Gln347His
NM_001354800.1:c.1041G>T NP_001341729.1:p.Gln347His
NM_001354801.1:c.30G>T NP_001341730.1:p.Gln10His
NM_001354802.1:c.-100G>T NP_001341731.1:n.-100G>T
NM_001354803.1:c.75G>T NP_001341732.1:p.Gln25His
NM_033507.2:c.1044G>T NP_277042.1:p.Gln348His
NM_033508.2:c.1038G>T NP_277043.1:p.Gln346His
XM_024446707.1:c.-100G>T XP_024302475.1:n.-100G>T
NM_000162.5:c.1041G>T MANE Select NP_000153.1:p.Gln347His
NM_033507.3:c.1044G>T NP_277042.1:p.Gln348His
NM_033508.3:c.1038G>T NP_277043.1:p.Gln346His
NM_001354803.2:c.75G>T NP_001341732.1:p.Gln25His