Canonical Allele Identifier: CA454606334
Gene: GCK HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.44184750A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145151A>G , CM000669.2:g.44145151A>G GRCh38
NC_000007.13:g.44184750A>G , CM000669.1:g.44184750A>G GRCh37
NC_000007.12:g.44151275A>G NCBI36
NG_008847.1:g.49273T>C
NG_008847.2:g.58020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1381T>C ENSP00000379142.4:n.*1381T>C
ENST00000616242.5:c.*503T>C ENSP00000482149.2:n.*503T>C
ENST00000683378.1:n.609T>C
ENST00000336642.9:c.417T>C ENSP00000338009.5:p.Cys139=
ENST00000345378.7:c.1386T>C ENSP00000223366.2:p.Cys462=
ENST00000403799.8:c.1383T>C MANE Select ENSP00000384247.3:p.Cys461=
ENST00000671824.1:c.1446T>C ENSP00000500264.1:p.Cys482=
ENST00000672743.1:n.381+14T>C
ENST00000673284.1:c.1369+14T>C ENSP00000499852.1:n.1369+14T>C
ENST00000336642.8:c.435T>C ENSP00000338009.4:p.Cys145=
ENST00000345378.6:c.1386T>C ENSP00000223366.2:p.Cys462=
ENST00000395796.7:c.1380T>C ENSP00000379142.3:p.Cys460=
ENST00000403799.7:c.1383T>C ENSP00000384247.3:p.Cys461=
ENST00000437084.1:c.1332T>C ENSP00000402840.1:p.Cys444=
ENST00000459642.1:n.763T>C
ENST00000616242.4:c.1380T>C ENSP00000482149.1:p.Cys460=
NM_000162.3:c.1383T>C NP_000153.1:p.Cys461=
NM_033507.1:c.1386T>C NP_277042.1:p.Cys462=
NM_033508.1:c.1380T>C NP_277043.1:p.Cys460=
NM_000162.4:c.1383T>C NP_000153.1:p.Cys461=
NM_001354800.1:c.1369+14T>C NP_001341729.1:n.1369+14T>C
NM_001354801.1:c.372T>C NP_001341730.1:p.Cys124=
NM_001354802.1:c.229+14T>C NP_001341731.1:n.229+14T>C
NM_001354803.1:c.417T>C NP_001341732.1:p.Cys139=
NM_033507.2:c.1386T>C NP_277042.1:p.Cys462=
NM_033508.2:c.1380T>C NP_277043.1:p.Cys460=
XM_024446707.1:c.243T>C XP_024302475.1:p.Cys81=
NM_000162.5:c.1383T>C MANE Select NP_000153.1:p.Cys461=
NM_033507.3:c.1386T>C NP_277042.1:p.Cys462=
NM_033508.3:c.1380T>C NP_277043.1:p.Cys460=
NM_001354803.2:c.417T>C NP_001341732.1:p.Cys139=