Canonical Allele Identifier: CA4239532
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs759421263
ExAC: 7:44187370 C / T
gnomAD v2: 7-44187370-C-T
gnomAD v4: 7-44147771-C-T
MyVariant Identifiers: chr7:g.44187370C>T (hg19) chr7:g.44147771C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147771C>T , CM000669.2:g.44147771C>T GRCh38
NC_000007.13:g.44187370C>T , CM000669.1:g.44187370C>T GRCh37
NC_000007.12:g.44153895C>T NCBI36
NG_008847.1:g.46653G>A
NG_008847.2:g.55400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*740G>A ENSP00000379142.4:n.*740G>A
ENST00000616242.5:c.742G>A ENSP00000482149.2:p.Glu248Lys
ENST00000345378.7:c.745G>A ENSP00000223366.2:p.Glu249Lys
ENST00000403799.8:c.742G>A MANE Select ENSP00000384247.3:p.Glu248Lys
ENST00000671824.1:c.742G>A ENSP00000500264.1:p.Glu248Lys
ENST00000673284.1:c.742G>A ENSP00000499852.1:p.Glu248Lys
ENST00000345378.6:c.745G>A ENSP00000223366.2:p.Glu249Lys
ENST00000395796.7:c.739G>A ENSP00000379142.3:p.Glu247Lys
ENST00000403799.7:c.742G>A ENSP00000384247.3:p.Glu248Lys
ENST00000437084.1:c.691G>A ENSP00000402840.1:p.Glu231Lys
ENST00000616242.4:c.739G>A ENSP00000482149.1:p.Glu247Lys
NM_000162.3:c.742G>A NP_000153.1:p.Glu248Lys
NM_033507.1:c.745G>A NP_277042.1:p.Glu249Lys
NM_033508.1:c.739G>A NP_277043.1:p.Glu247Lys
XR_927223.1:n.82+23C>T
NM_000162.4:c.742G>A NP_000153.1:p.Glu248Lys
NM_001354800.1:c.742G>A NP_001341729.1:p.Glu248Lys
NM_033507.2:c.745G>A NP_277042.1:p.Glu249Lys
NM_033508.2:c.739G>A NP_277043.1:p.Glu247Lys
XR_927223.2:n.82+23C>T
NM_000162.5:c.742G>A MANE Select NP_000153.1:p.Glu248Lys
NM_033507.3:c.745G>A NP_277042.1:p.Glu249Lys
NM_033508.3:c.739G>A NP_277043.1:p.Glu247Lys
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