Canonical Allele Identifier: CA367398384

Gene: GCK

Linked Data

• ClinVar Variation Id: 2432082
• ClinVar RCV Id: RCV003135342
• MyVariant Identifiers: chr7:g.44185136T>C (hg19) ; chr7:g.44145537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145537T>C , CM000669.2:g.44145537T>C	GRCh38
NC_000007.13:g.44185136T>C , CM000669.1:g.44185136T>C	GRCh37
NC_000007.12:g.44151661T>C	NCBI36
NG_008847.1:g.48887A>G
NG_008847.2:g.57634A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1211A>G	ENSP00000379142.4:n.*1211A>G
ENST00000616242.5:c.*333A>G	ENSP00000482149.2:n.*333A>G
ENST00000683378.1:n.439A>G
ENST00000336642.9:c.247A>G	ENSP00000338009.5:p.Thr83Ala
ENST00000345378.7:c.1216A>G	ENSP00000223366.2:p.Thr406Ala
ENST00000403799.8:c.1213A>G MANE Select	ENSP00000384247.3:p.Thr405Ala
ENST00000671824.1:c.1276A>G	ENSP00000500264.1:p.Thr426Ala
ENST00000672743.1:n.225A>G
ENST00000673284.1:c.1213A>G	ENSP00000499852.1:p.Thr405Ala
ENST00000336642.8:c.265A>G	ENSP00000338009.4:p.Thr89Ala
ENST00000345378.6:c.1216A>G	ENSP00000223366.2:p.Thr406Ala
ENST00000395796.7:c.1210A>G	ENSP00000379142.3:p.Thr404Ala
ENST00000403799.7:c.1213A>G	ENSP00000384247.3:p.Thr405Ala
ENST00000437084.1:c.1162A>G	ENSP00000402840.1:p.Thr388Ala
ENST00000459642.1:n.593A>G
ENST00000616242.4:c.1210A>G	ENSP00000482149.1:p.Thr404Ala
NM_000162.3:c.1213A>G	NP_000153.1:p.Thr405Ala
NM_033507.1:c.1216A>G	NP_277042.1:p.Thr406Ala
NM_033508.1:c.1210A>G	NP_277043.1:p.Thr404Ala
NM_000162.4:c.1213A>G	NP_000153.1:p.Thr405Ala
NM_001354800.1:c.1213A>G	NP_001341729.1:p.Thr405Ala
NM_001354801.1:c.202A>G	NP_001341730.1:p.Thr68Ala
NM_001354802.1:c.73A>G	NP_001341731.1:p.Thr25Ala
NM_001354803.1:c.247A>G	NP_001341732.1:p.Thr83Ala
NM_033507.2:c.1216A>G	NP_277042.1:p.Thr406Ala
NM_033508.2:c.1210A>G	NP_277043.1:p.Thr404Ala
XM_024446707.1:c.73A>G	XP_024302475.1:p.Thr25Ala
NM_000162.5:c.1213A>G MANE Select	NP_000153.1:p.Thr405Ala
NM_033507.3:c.1216A>G	NP_277042.1:p.Thr406Ala
NM_033508.3:c.1210A>G	NP_277043.1:p.Thr404Ala
NM_001354803.2:c.247A>G	NP_001341732.1:p.Thr83Ala