Canonical Allele Identifier: CA136954627
Gene: HLA-DQB1 HGNC NCBI
HLA-DQB1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32660651C>A
GRCh37 chr6:g.32628428C>A
gnomAD v2:
6:32628428 C / A
gnomAD v3:
6:32660651 C / A
gnomAD v4:
chr6-32660651-C-A
Joint Max Group AF 0.11891899 (SAS)
Genomes Max Group AF 0.12262156 (NFE)
Exomes Max Group AF 0.11918576 (SAS)
dbSNP:
2854275
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32660651C>A , CM000668.2:g.32660651C>A GRCh38
NC_000006.11:g.32628428C>A , CM000668.1:g.32628428C>A GRCh37
NC_000006.10:g.32736406C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.773-402G>T (HLA-DQB1) MANE Select ENSP00000407332.2:n.773-402G>T
ENST00000374943.8:c.796+208G>T (HLA-DQB1) ENSP00000364080.4:n.796+208G>T
ENST00000399079.7:c.662-402G>T (HLA-DQB1) ENSP00000382029.3:n.662-402G>T
ENST00000399082.7:c.392-402G>T (HLA-DQB1) ENSP00000382032.3:n.392-402G>T
ENST00000399084.5:c.773-402G>T (HLA-DQB1) ENSP00000382034.1:n.773-402G>T
ENST00000434651.6:c.773-402G>T (HLA-DQB1) ENSP00000407332.2:n.773-402G>T
ENST00000443574.1:n.98-554G>T (HLA-DQB1)
ENST00000484729.2:c.*199-402G>T (HLA-DQB1) ENSP00000436686.1:n.*199-402G>T
ENST00000487676.1:n.3862-402G>T (HLA-DQB1)
NM_001243961.1:c.796+208G>T (HLA-DQB1) NP_001230890.1:n.796+208G>T
NM_002123.4:c.773-402G>T (HLA-DQB1) NP_002114.3:n.773-402G>T
NR_133907.1:n.474C>A (HLA-DQB1-AS1)
NM_001243961.2:c.796+208G>T (HLA-DQB1) NP_001230890.1:n.796+208G>T
NM_002123.5:c.773-402G>T (HLA-DQB1) MANE Select NP_002114.3:n.773-402G>T
Search 100 bp 5'
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