Canonical Allele Identifier: CA11713951
Gene: DGKQ HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.970571C>T
GRCh37 chr4:g.964359C>T
gnomAD v2:
4:964359 C / T
gnomAD v3:
4:970571 C / T
gnomAD v4:
chr4-970571-C-T
Joint Max Group AF 0.20707538 (SAS)
Genomes Max Group AF 0.20707538 (SAS)
dbSNP:
11248060
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.970571C>T , CM000666.2:g.970571C>T GRCh38
NC_000004.11:g.964359C>T , CM000666.1:g.964359C>T GRCh37
NC_000004.10:g.954359C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.351+422G>A MANE Select ENSP00000273814.3:n.351+422G>A
ENST00000273814.7:c.351+422G>A ENSP00000273814.3:n.351+422G>A
ENST00000509465.5:c.191+422G>A
ENST00000510286.1:c.126+422G>A ENSP00000427268.1:n.126+422G>A
NM_001347.3:c.351+422G>A NP_001338.2:n.351+422G>A
XM_011513411.1:c.351+422G>A XP_011511713.1:n.351+422G>A
XM_011513412.1:c.351+422G>A XP_011511714.1:n.351+422G>A
XM_011513413.1:c.351+422G>A XP_011511715.1:n.351+422G>A
XM_011513414.1:c.351+422G>A XP_011511716.1:n.351+422G>A
XM_011513415.1:c.351+422G>A XP_011511717.1:n.351+422G>A
XM_011513414.2:c.351+422G>A XP_011511716.1:n.351+422G>A
XM_017007814.1:c.351+422G>A XP_016863303.1:n.351+422G>A
XM_017007815.1:c.351+422G>A XP_016863304.1:n.351+422G>A
XR_002959715.1:n.414+422G>A
NM_001347.4:c.351+422G>A MANE Select NP_001338.2:n.351+422G>A
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