Canonical Allele Identifier: CA1087616325
Gene: HLA-DQB1 HGNC NCBI
HLA-DQB1-AS1 HGNC NCBI

Linked Data

gnomAD v3: 6-32660116-C-T
gnomAD v4: 6-32660116-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32660116C>T , CM000668.2:g.32660116C>T GRCh38
NC_000006.11:g.32627893C>T , CM000668.1:g.32627893C>T GRCh37
NC_000006.10:g.32735871C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*120G>A (HLA-DQB1) MANE Select ENSP00000407332.2:n.*120G>A
ENST00000374943.8:c.*120G>A (HLA-DQB1) ENSP00000364080.4:n.*120G>A
ENST00000399079.7:c.*120G>A (HLA-DQB1) ENSP00000382029.3:n.*120G>A
ENST00000399082.7:c.*120G>A (HLA-DQB1) ENSP00000382032.3:n.*120G>A
ENST00000399084.5:c.*120G>A (HLA-DQB1) ENSP00000382034.1:n.*120G>A
ENST00000434651.6:c.*120G>A (HLA-DQB1) ENSP00000407332.2:n.*120G>A
ENST00000443574.1:n.98-19G>A (HLA-DQB1)
ENST00000460185.1:n.198G>A (HLA-DQB1)
ENST00000484729.2:c.*332G>A (HLA-DQB1) ENSP00000436686.1:n.*332G>A
ENST00000487676.1:n.3995G>A (HLA-DQB1)
NM_001243961.1:c.*120G>A (HLA-DQB1) NP_001230890.1:n.*120G>A
NM_002123.4:c.*120G>A (HLA-DQB1) NP_002114.3:n.*120G>A
NR_133907.1:n.177+60C>T (HLA-DQB1-AS1)
NM_001243961.2:c.*120G>A (HLA-DQB1) NP_001230890.1:n.*120G>A
NM_002123.5:c.*120G>A (HLA-DQB1) MANE Select NP_002114.3:n.*120G>A