Canonical Allele Identifier: CA367401750

Gene: GCK

Linked Data

• ClinVar Variation Id: 1490297
• ClinVar RCV Id: RCV001978541 ; RCV003446980
• dbSNP Id: rs2096278825
• MyVariant Identifiers: chr7:g.44189644G>A (hg19) ; chr7:g.44150045G>A (hg38)
• ERepo: CA367401750/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150045G>A , CM000669.2:g.44150045G>A	GRCh38
NC_000007.13:g.44189644G>A , CM000669.1:g.44189644G>A	GRCh37
NC_000007.12:g.44156169G>A	NCBI36
NG_008847.1:g.44379C>T
NG_008847.2:g.53126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*501C>T	ENSP00000379142.4:n.*501C>T
ENST00000616242.5:c.503C>T	ENSP00000482149.2:p.Thr168Ile
ENST00000682635.1:n.989C>T
ENST00000345378.7:c.506C>T	ENSP00000223366.2:p.Thr169Ile
ENST00000403799.8:c.503C>T MANE Select	ENSP00000384247.3:p.Thr168Ile
ENST00000671824.1:c.503C>T	ENSP00000500264.1:p.Thr168Ile
ENST00000673284.1:c.503C>T	ENSP00000499852.1:p.Thr168Ile
ENST00000345378.6:c.506C>T	ENSP00000223366.2:p.Thr169Ile
ENST00000395796.7:c.500C>T	ENSP00000379142.3:p.Thr167Ile
ENST00000403799.7:c.503C>T	ENSP00000384247.3:p.Thr168Ile
ENST00000437084.1:c.452C>T	ENSP00000402840.1:p.Thr151Ile
ENST00000616242.4:c.500C>T	ENSP00000482149.1:p.Thr167Ile
NM_000162.3:c.503C>T	NP_000153.1:p.Thr168Ile
NM_033507.1:c.506C>T	NP_277042.1:p.Thr169Ile
NM_033508.1:c.500C>T	NP_277043.1:p.Thr167Ile
NM_000162.4:c.503C>T	NP_000153.1:p.Thr168Ile
NM_001354800.1:c.503C>T	NP_001341729.1:p.Thr168Ile
NM_033507.2:c.506C>T	NP_277042.1:p.Thr169Ile
NM_033508.2:c.500C>T	NP_277043.1:p.Thr167Ile
NM_000162.5:c.503C>T MANE Select	NP_000153.1:p.Thr168Ile
NM_033507.3:c.506C>T	NP_277042.1:p.Thr169Ile
NM_033508.3:c.500C>T	NP_277043.1:p.Thr167Ile