Canonical Allele Identifier: CA1087616122
Gene: HLA-DQB1 HGNC NCBI

Linked Data

dbSNP Id: rs1782815744
gnomAD v3: 6-32659853-C-T
gnomAD v4: 6-32659853-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32659853C>T , CM000668.2:g.32659853C>T GRCh38
NC_000006.11:g.32627630C>T , CM000668.1:g.32627630C>T GRCh37
NC_000006.10:g.32735608C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*383G>A MANE Select ENSP00000407332.2:n.*383G>A
ENST00000374943.8:c.*383G>A ENSP00000364080.4:n.*383G>A
ENST00000399079.7:c.*383G>A ENSP00000382029.3:n.*383G>A
ENST00000399082.7:c.*383G>A ENSP00000382032.3:n.*383G>A
ENST00000399084.5:c.*383G>A ENSP00000382034.1:n.*383G>A
ENST00000434651.6:c.*383G>A ENSP00000407332.2:n.*383G>A
ENST00000487676.1:n.4258G>A
NM_001243961.1:c.*383G>A NP_001230890.1:n.*383G>A
NM_002123.4:c.*383G>A NP_002114.3:n.*383G>A
NM_001243961.2:c.*383G>A NP_001230890.1:n.*383G>A
NM_002123.5:c.*383G>A MANE Select NP_002114.3:n.*383G>A