Canonical Allele Identifier: CA2801001

Gene: DGKQ

Linked Data

• dbSNP Id: rs746541173
• ExAC: 4:964782 C / T
• gnomAD v2: 4-964782-C-T
• gnomAD v3: 4-970994-C-T
• gnomAD v4: 4-970994-C-T
• MyVariant Identifiers: chr4:g.964782C>T (hg19) ; chr4:g.970994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.970994C>T , CM000666.2:g.970994C>T	GRCh38
NC_000004.11:g.964782C>T , CM000666.1:g.964782C>T	GRCh37
NC_000004.10:g.954782C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.350G>A MANE Select	ENSP00000273814.3:p.Arg117Gln
ENST00000273814.7:c.350G>A	ENSP00000273814.3:p.Arg117Gln
ENST00000509465.5:c.190G>A
ENST00000510286.1:c.125G>A	ENSP00000427268.1:p.Arg42Gln
NM_001347.3:c.350G>A	NP_001338.2:p.Arg117Gln
XM_011513411.1:c.350G>A	XP_011511713.1:p.Arg117Gln
XM_011513412.1:c.350G>A	XP_011511714.1:p.Arg117Gln
XM_011513413.1:c.350G>A	XP_011511715.1:p.Arg117Gln
XM_011513414.1:c.350G>A	XP_011511716.1:p.Arg117Gln
XM_011513415.1:c.350G>A	XP_011511717.1:p.Arg117Gln
XM_011513414.2:c.350G>A	XP_011511716.1:p.Arg117Gln
XM_017007814.1:c.350G>A	XP_016863303.1:p.Arg117Gln
XM_017007815.1:c.350G>A	XP_016863304.1:p.Arg117Gln
XR_002959715.1:n.413G>A
NM_001347.4:c.350G>A MANE Select	NP_001338.2:p.Arg117Gln