Canonical Allele Identifier: CA449744535
Gene: HLA-DQB1 HGNC NCBI
HLA-DQB1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1130422
gnomAD v2: 6-32627844-G-C
gnomAD v3: 6-32660067-G-C
gnomAD v4: 6-32660067-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32660067G>C , CM000668.2:g.32660067G>C GRCh38
NC_000006.11:g.32627844G>C , CM000668.1:g.32627844G>C GRCh37
NC_000006.10:g.32735822G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*169C>G (HLA-DQB1) MANE Select ENSP00000407332.2:n.*169C>G
ENST00000374943.8:c.*169C>G (HLA-DQB1) ENSP00000364080.4:n.*169C>G
ENST00000399079.7:c.*169C>G (HLA-DQB1) ENSP00000382029.3:n.*169C>G
ENST00000399082.7:c.*169C>G (HLA-DQB1) ENSP00000382032.3:n.*169C>G
ENST00000399084.5:c.*169C>G (HLA-DQB1) ENSP00000382034.1:n.*169C>G
ENST00000434651.6:c.*169C>G (HLA-DQB1) ENSP00000407332.2:n.*169C>G
ENST00000443574.1:n.128C>G (HLA-DQB1)
ENST00000460185.1:n.247C>G (HLA-DQB1)
ENST00000487676.1:n.4044C>G (HLA-DQB1)
NM_001243961.1:c.*169C>G (HLA-DQB1) NP_001230890.1:n.*169C>G
NM_002123.4:c.*169C>G (HLA-DQB1) NP_002114.3:n.*169C>G
NR_133907.1:n.177+11G>C (HLA-DQB1-AS1)
NM_001243961.2:c.*169C>G (HLA-DQB1) NP_001230890.1:n.*169C>G
NM_002123.5:c.*169C>G (HLA-DQB1) MANE Select NP_002114.3:n.*169C>G