Canonical Allele Identifier: CA3744596
Gene: HLA-DQB1 HGNC NCBI
COSMIC:
COSM3733870 (not active)
MyVariant.info:
GRCh38 chr6:g.32664917C>G
GRCh37 chr6:g.32632694C>G
Revel Score:
ENST00000399079 0.117
ENST00000374943 0.117
ENST00000434651 (MANE Select) 0.117
ENST00000399084 0.117
ENST00000447884 0.117
gnomAD v2:
6:32632694 C / G
gnomAD v3:
6:32664917 C / G
gnomAD v4:
chr6-32664917-C-G
Joint Max Group AF 0.45096021 (AMR)
Genomes Max Group AF 0.44081155 (EAS)
Exomes Max Group AF 0.45450665 (AMR)
dbSNP:
1130380
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32664917C>G , CM000668.2:g.32664917C>G GRCh38
NC_000006.11:g.32632694C>G , CM000668.1:g.32632694C>G GRCh37
NC_000006.10:g.32740672C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.260G>C MANE Select ENSP00000407332.2:p.Arg87Pro
ENST00000374943.8:c.260G>C ENSP00000364080.4:p.Arg87Pro
ENST00000399079.7:c.260G>C ENSP00000382029.3:p.Arg87Pro
ENST00000399082.7:c.109+1582G>C ENSP00000382032.3:n.109+1582G>C
ENST00000399084.5:c.260G>C ENSP00000382034.1:p.Arg87Pro
ENST00000434651.6:c.260G>C ENSP00000407332.2:p.Arg87Pro
ENST00000484729.2:c.260G>C ENSP00000436686.1:p.Arg87Pro
ENST00000487676.1:n.291G>C
NM_001243961.1:c.260G>C NP_001230890.1:p.Arg87Pro
NM_002123.4:c.260G>C NP_002114.3:p.Arg87Pro
NM_001243961.2:c.260G>C NP_001230890.1:p.Arg87Pro
NM_002123.5:c.260G>C MANE Select NP_002114.3:p.Arg87Pro
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