Canonical Allele Identifier: CA1087615990
Gene: HLA-DQB1 HGNC NCBI

Linked Data

dbSNP Id: rs1782786634
gnomAD v3: 6-32659647-G-A
gnomAD v4: 6-32659647-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32659647G>A , CM000668.2:g.32659647G>A GRCh38
NC_000006.11:g.32627424G>A , CM000668.1:g.32627424G>A GRCh37
NC_000006.10:g.32735402G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*589C>T MANE Select ENSP00000407332.2:n.*589C>T
ENST00000374943.8:c.*589C>T ENSP00000364080.4:n.*589C>T
ENST00000399079.7:c.*589C>T ENSP00000382029.3:n.*589C>T
ENST00000399082.7:c.*589C>T ENSP00000382032.3:n.*589C>T
ENST00000399084.5:c.*589C>T ENSP00000382034.1:n.*589C>T
ENST00000434651.6:c.*589C>T ENSP00000407332.2:n.*589C>T
ENST00000487676.1:n.4464C>T
NM_001243961.1:c.*589C>T NP_001230890.1:n.*589C>T
NM_002123.4:c.*589C>T NP_002114.3:n.*589C>T
NM_001243961.2:c.*589C>T NP_001230890.1:n.*589C>T
NM_002123.5:c.*589C>T MANE Select NP_002114.3:n.*589C>T
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Search 100 bp 3'