Canonical Allele Identifier: CA12188478
Gene: HLA-DQB1 HGNC NCBI
HLA-DQB1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1049219
gnomAD v2: 6-32627763-A-T
gnomAD v3: 6-32659986-A-T
gnomAD v4: 6-32659986-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32659986A>T , CM000668.2:g.32659986A>T GRCh38
NC_000006.11:g.32627763A>T , CM000668.1:g.32627763A>T GRCh37
NC_000006.10:g.32735741A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*250T>A (HLA-DQB1) MANE Select ENSP00000407332.2:n.*250T>A
ENST00000374943.8:c.*250T>A (HLA-DQB1) ENSP00000364080.4:n.*250T>A
ENST00000399079.7:c.*250T>A (HLA-DQB1) ENSP00000382029.3:n.*250T>A
ENST00000399082.7:c.*250T>A (HLA-DQB1) ENSP00000382032.3:n.*250T>A
ENST00000399084.5:c.*250T>A (HLA-DQB1) ENSP00000382034.1:n.*250T>A
ENST00000434651.6:c.*250T>A (HLA-DQB1) ENSP00000407332.2:n.*250T>A
ENST00000443574.1:n.209T>A (HLA-DQB1)
ENST00000460185.1:n.328T>A (HLA-DQB1)
ENST00000487676.1:n.4125T>A (HLA-DQB1)
NM_001243961.1:c.*250T>A (HLA-DQB1) NP_001230890.1:n.*250T>A
NM_002123.4:c.*250T>A (HLA-DQB1) NP_002114.3:n.*250T>A
NR_133907.1:n.107A>T (HLA-DQB1-AS1)
NM_001243961.2:c.*250T>A (HLA-DQB1) NP_001230890.1:n.*250T>A
NM_002123.5:c.*250T>A (HLA-DQB1) MANE Select NP_002114.3:n.*250T>A