Canonical Allele Identifier: CA454863172
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145559-G-T
MyVariant Identifiers: chr7:g.44185158G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145559G>T , CM000669.2:g.44145559G>T GRCh38
NC_000007.13:g.44185158G>T , CM000669.1:g.44185158G>T GRCh37
NC_000007.12:g.44151683G>T NCBI36
NG_008847.1:g.48865C>A
NG_008847.2:g.57612C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1189C>A ENSP00000379142.4:n.*1189C>A
ENST00000616242.5:c.*311C>A ENSP00000482149.2:n.*311C>A
ENST00000683378.1:n.417C>A
ENST00000336642.9:c.225C>A ENSP00000338009.5:p.Arg75=
ENST00000345378.7:c.1194C>A ENSP00000223366.2:p.Arg398=
ENST00000403799.8:c.1191C>A MANE Select ENSP00000384247.3:p.Arg397=
ENST00000671824.1:c.1254C>A ENSP00000500264.1:p.Arg418=
ENST00000672743.1:n.203C>A
ENST00000673284.1:c.1191C>A ENSP00000499852.1:p.Arg397=
ENST00000336642.8:c.243C>A ENSP00000338009.4:p.Arg81=
ENST00000345378.6:c.1194C>A ENSP00000223366.2:p.Arg398=
ENST00000395796.7:c.1188C>A ENSP00000379142.3:p.Arg396=
ENST00000403799.7:c.1191C>A ENSP00000384247.3:p.Arg397=
ENST00000437084.1:c.1140C>A ENSP00000402840.1:p.Arg380=
ENST00000459642.1:n.571C>A
ENST00000616242.4:c.1188C>A ENSP00000482149.1:p.Arg396=
NM_000162.3:c.1191C>A NP_000153.1:p.Arg397=
NM_033507.1:c.1194C>A NP_277042.1:p.Arg398=
NM_033508.1:c.1188C>A NP_277043.1:p.Arg396=
NM_000162.4:c.1191C>A NP_000153.1:p.Arg397=
NM_001354800.1:c.1191C>A NP_001341729.1:p.Arg397=
NM_001354801.1:c.180C>A NP_001341730.1:p.Arg60=
NM_001354802.1:c.51C>A NP_001341731.1:p.Arg17=
NM_001354803.1:c.225C>A NP_001341732.1:p.Arg75=
NM_033507.2:c.1194C>A NP_277042.1:p.Arg398=
NM_033508.2:c.1188C>A NP_277043.1:p.Arg396=
XM_024446707.1:c.51C>A XP_024302475.1:p.Arg17=
NM_000162.5:c.1191C>A MANE Select NP_000153.1:p.Arg397=
NM_033507.3:c.1194C>A NP_277042.1:p.Arg398=
NM_033508.3:c.1188C>A NP_277043.1:p.Arg396=
NM_001354803.2:c.225C>A NP_001341732.1:p.Arg75=
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