Canonical Allele Identifier: CA4239384

Gene: GCK

Linked Data

• dbSNP Id: rs146683328
• ExAC: 7:44184847 C / T
• gnomAD v2: 7-44184847-C-T
• gnomAD v3: 7-44145248-C-T
• gnomAD v4: 7-44145248-C-T
• MyVariant Identifiers: chr7:g.44184847C>T (hg19) ; chr7:g.44145248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145248C>T , CM000669.2:g.44145248C>T	GRCh38
NC_000007.13:g.44184847C>T , CM000669.1:g.44184847C>T	GRCh37
NC_000007.12:g.44151372C>T	NCBI36
NG_008847.1:g.49176G>A
NG_008847.2:g.57923G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1284G>A	ENSP00000379142.4:n.*1284G>A
ENST00000616242.5:c.*406G>A	ENSP00000482149.2:n.*406G>A
ENST00000683378.1:n.512G>A
ENST00000336642.9:c.320G>A	ENSP00000338009.5:p.Arg107Lys
ENST00000345378.7:c.1289G>A	ENSP00000223366.2:p.Arg430Lys
ENST00000403799.8:c.1286G>A MANE Select	ENSP00000384247.3:p.Arg429Lys
ENST00000671824.1:c.1349G>A	ENSP00000500264.1:p.Arg450Lys
ENST00000672743.1:n.298G>A
ENST00000673284.1:c.1286G>A	ENSP00000499852.1:p.Arg429Lys
ENST00000336642.8:c.338G>A	ENSP00000338009.4:p.Arg113Lys
ENST00000345378.6:c.1289G>A	ENSP00000223366.2:p.Arg430Lys
ENST00000395796.7:c.1283G>A	ENSP00000379142.3:p.Arg428Lys
ENST00000403799.7:c.1286G>A	ENSP00000384247.3:p.Arg429Lys
ENST00000437084.1:c.1235G>A	ENSP00000402840.1:p.Arg412Lys
ENST00000459642.1:n.666G>A
ENST00000616242.4:c.1283G>A	ENSP00000482149.1:p.Arg428Lys
NM_000162.3:c.1286G>A	NP_000153.1:p.Arg429Lys
NM_033507.1:c.1289G>A	NP_277042.1:p.Arg430Lys
NM_033508.1:c.1283G>A	NP_277043.1:p.Arg428Lys
NM_000162.4:c.1286G>A	NP_000153.1:p.Arg429Lys
NM_001354800.1:c.1286G>A	NP_001341729.1:p.Arg429Lys
NM_001354801.1:c.275G>A	NP_001341730.1:p.Arg92Lys
NM_001354802.1:c.146G>A	NP_001341731.1:p.Arg49Lys
NM_001354803.1:c.320G>A	NP_001341732.1:p.Arg107Lys
NM_033507.2:c.1289G>A	NP_277042.1:p.Arg430Lys
NM_033508.2:c.1283G>A	NP_277043.1:p.Arg428Lys
XM_024446707.1:c.146G>A	XP_024302475.1:p.Arg49Lys
NM_000162.5:c.1286G>A MANE Select	NP_000153.1:p.Arg429Lys
NM_033507.3:c.1289G>A	NP_277042.1:p.Arg430Lys
NM_033508.3:c.1283G>A	NP_277043.1:p.Arg428Lys
NM_001354803.2:c.320G>A	NP_001341732.1:p.Arg107Lys