Canonical Allele Identifier: CA454606689

Gene: GCK

Linked Data

• dbSNP Id: rs748686229
• gnomAD v2: 7-44184840-C-T
• gnomAD v4: 7-44145241-C-T
• MyVariant Identifiers: chr7:g.44184840C>T (hg19) ; chr7:g.44145241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145241C>T , CM000669.2:g.44145241C>T	GRCh38
NC_000007.13:g.44184840C>T , CM000669.1:g.44184840C>T	GRCh37
NC_000007.12:g.44151365C>T	NCBI36
NG_008847.1:g.49183G>A
NG_008847.2:g.57930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1291G>A	ENSP00000379142.4:n.*1291G>A
ENST00000616242.5:c.*413G>A	ENSP00000482149.2:n.*413G>A
ENST00000683378.1:n.519G>A
ENST00000336642.9:c.327G>A	ENSP00000338009.5:p.Thr109=
ENST00000345378.7:c.1296G>A	ENSP00000223366.2:p.Thr432=
ENST00000403799.8:c.1293G>A MANE Select	ENSP00000384247.3:p.Thr431=
ENST00000671824.1:c.1356G>A	ENSP00000500264.1:p.Thr452=
ENST00000672743.1:n.305G>A
ENST00000673284.1:c.1293G>A	ENSP00000499852.1:p.Thr431=
ENST00000336642.8:c.345G>A	ENSP00000338009.4:p.Thr115=
ENST00000345378.6:c.1296G>A	ENSP00000223366.2:p.Thr432=
ENST00000395796.7:c.1290G>A	ENSP00000379142.3:p.Thr430=
ENST00000403799.7:c.1293G>A	ENSP00000384247.3:p.Thr431=
ENST00000437084.1:c.1242G>A	ENSP00000402840.1:p.Thr414=
ENST00000459642.1:n.673G>A
ENST00000616242.4:c.1290G>A	ENSP00000482149.1:p.Thr430=
NM_000162.3:c.1293G>A	NP_000153.1:p.Thr431=
NM_033507.1:c.1296G>A	NP_277042.1:p.Thr432=
NM_033508.1:c.1290G>A	NP_277043.1:p.Thr430=
NM_000162.4:c.1293G>A	NP_000153.1:p.Thr431=
NM_001354800.1:c.1293G>A	NP_001341729.1:p.Thr431=
NM_001354801.1:c.282G>A	NP_001341730.1:p.Thr94=
NM_001354802.1:c.153G>A	NP_001341731.1:p.Thr51=
NM_001354803.1:c.327G>A	NP_001341732.1:p.Thr109=
NM_033507.2:c.1296G>A	NP_277042.1:p.Thr432=
NM_033508.2:c.1290G>A	NP_277043.1:p.Thr430=
XM_024446707.1:c.153G>A	XP_024302475.1:p.Thr51=
NM_000162.5:c.1293G>A MANE Select	NP_000153.1:p.Thr431=
NM_033507.3:c.1296G>A	NP_277042.1:p.Thr432=
NM_033508.3:c.1290G>A	NP_277043.1:p.Thr430=
NM_001354803.2:c.327G>A	NP_001341732.1:p.Thr109=