Canonical Allele Identifier: CA367401928

Gene: GCK

Linked Data

• ClinVar Variation Id: 3233993
• ClinVar RCV Id: RCV004527569
• MyVariant Identifiers: chr7:g.44190584A>T (hg19) ; chr7:g.44150985A>T (hg38)
• ERepo: CA367401928/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150985A>T , CM000669.2:g.44150985A>T	GRCh38
NC_000007.13:g.44190584A>T , CM000669.1:g.44190584A>T	GRCh37
NC_000007.12:g.44157109A>T	NCBI36
NG_008847.1:g.43439T>A
NG_008847.2:g.52186T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*452T>A	ENSP00000379142.4:n.*452T>A
ENST00000616242.5:c.454T>A	ENSP00000482149.2:p.Phe152Ile
ENST00000682635.1:n.940T>A
ENST00000345378.7:c.457T>A	ENSP00000223366.2:p.Phe153Ile
ENST00000403799.8:c.454T>A MANE Select	ENSP00000384247.3:p.Phe152Ile
ENST00000671824.1:c.454T>A	ENSP00000500264.1:p.Phe152Ile
ENST00000673284.1:c.454T>A	ENSP00000499852.1:p.Phe152Ile
ENST00000345378.6:c.457T>A	ENSP00000223366.2:p.Phe153Ile
ENST00000395796.7:c.451T>A	ENSP00000379142.3:p.Phe151Ile
ENST00000403799.7:c.454T>A	ENSP00000384247.3:p.Phe152Ile
ENST00000437084.1:c.403T>A	ENSP00000402840.1:p.Phe135Ile
ENST00000616242.4:c.451T>A	ENSP00000482149.1:p.Phe151Ile
NM_000162.3:c.454T>A	NP_000153.1:p.Phe152Ile
NM_033507.1:c.457T>A	NP_277042.1:p.Phe153Ile
NM_033508.1:c.451T>A	NP_277043.1:p.Phe151Ile
NM_000162.4:c.454T>A	NP_000153.1:p.Phe152Ile
NM_001354800.1:c.454T>A	NP_001341729.1:p.Phe152Ile
NM_033507.2:c.457T>A	NP_277042.1:p.Phe153Ile
NM_033508.2:c.451T>A	NP_277043.1:p.Phe151Ile
NM_000162.5:c.454T>A MANE Select	NP_000153.1:p.Phe152Ile
NM_033507.3:c.457T>A	NP_277042.1:p.Phe153Ile
NM_033508.3:c.451T>A	NP_277043.1:p.Phe151Ile