Canonical Allele Identifier: CA367402025

Gene: GCK

Linked Data

• ClinVar Variation Id: 1338409
• ClinVar RCV Id: RCV001817780
• dbSNP Id: rs1299283674
• MyVariant Identifiers: chr7:g.44190615G>T (hg19) ; chr7:g.44151016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44151016G>T , CM000669.2:g.44151016G>T	GRCh38
NC_000007.13:g.44190615G>T , CM000669.1:g.44190615G>T	GRCh37
NC_000007.12:g.44157140G>T	NCBI36
NG_008847.1:g.43408C>A
NG_008847.2:g.52155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*421C>A	ENSP00000379142.4:n.*421C>A
ENST00000616242.5:c.423C>A	ENSP00000482149.2:p.His141Gln
ENST00000682635.1:n.909C>A
ENST00000345378.7:c.426C>A	ENSP00000223366.2:p.His142Gln
ENST00000403799.8:c.423C>A MANE Select	ENSP00000384247.3:p.His141Gln
ENST00000671824.1:c.423C>A	ENSP00000500264.1:p.His141Gln
ENST00000673284.1:c.423C>A	ENSP00000499852.1:p.His141Gln
ENST00000345378.6:c.426C>A	ENSP00000223366.2:p.His142Gln
ENST00000395796.7:c.420C>A	ENSP00000379142.3:p.His140Gln
ENST00000403799.7:c.423C>A	ENSP00000384247.3:p.His141Gln
ENST00000437084.1:c.372C>A	ENSP00000402840.1:p.His124Gln
ENST00000616242.4:c.420C>A	ENSP00000482149.1:p.His140Gln
NM_000162.3:c.423C>A	NP_000153.1:p.His141Gln
NM_033507.1:c.426C>A	NP_277042.1:p.His142Gln
NM_033508.1:c.420C>A	NP_277043.1:p.His140Gln
NM_000162.4:c.423C>A	NP_000153.1:p.His141Gln
NM_001354800.1:c.423C>A	NP_001341729.1:p.His141Gln
NM_033507.2:c.426C>A	NP_277042.1:p.His142Gln
NM_033508.2:c.420C>A	NP_277043.1:p.His140Gln
NM_000162.5:c.423C>A MANE Select	NP_000153.1:p.His141Gln
NM_033507.3:c.426C>A	NP_277042.1:p.His142Gln
NM_033508.3:c.420C>A	NP_277043.1:p.His140Gln