Canonical Allele Identifier: CA1619674988
Gene: HLA-DQB1 HGNC NCBI

Linked Data

dbSNP Id: rs1130451
gnomAD v4: 6-32659750-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32659750C>T , CM000668.2:g.32659750C>T GRCh38
NC_000006.11:g.32627527C>T , CM000668.1:g.32627527C>T GRCh37
NC_000006.10:g.32735505C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*486G>A MANE Select ENSP00000407332.2:n.*486G>A
ENST00000374943.8:c.*486G>A ENSP00000364080.4:n.*486G>A
ENST00000399079.7:c.*486G>A ENSP00000382029.3:n.*486G>A
ENST00000399082.7:c.*486G>A ENSP00000382032.3:n.*486G>A
ENST00000399084.5:c.*486G>A ENSP00000382034.1:n.*486G>A
ENST00000434651.6:c.*486G>A ENSP00000407332.2:n.*486G>A
ENST00000487676.1:n.4361G>A
NM_001243961.1:c.*486G>A NP_001230890.1:n.*486G>A
NM_002123.4:c.*486G>A NP_002114.3:n.*486G>A
NM_001243961.2:c.*486G>A NP_001230890.1:n.*486G>A
NM_002123.5:c.*486G>A MANE Select NP_002114.3:n.*486G>A