Canonical Allele Identifier: CA136952871

Gene: HLA-DQB1

Linked Data

• dbSNP Id: rs1020147809
• gnomAD v2: 6-32627298-A-C
• gnomAD v3: 6-32659521-A-C
• gnomAD v4: 6-32659521-A-C
• MyVariant Identifiers: chr6:g.32627298A>C (hg19) ; chr6:g.32659521A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32659521A>C , CM000668.2:g.32659521A>C	GRCh38
NC_000006.11:g.32627298A>C , CM000668.1:g.32627298A>C	GRCh37
NC_000006.10:g.32735276A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434651.7:c.*715T>G MANE Select	ENSP00000407332.2:n.*715T>G
ENST00000374943.8:c.*715T>G	ENSP00000364080.4:n.*715T>G
ENST00000399079.7:c.*715T>G	ENSP00000382029.3:n.*715T>G
ENST00000399082.7:c.*715T>G	ENSP00000382032.3:n.*715T>G
ENST00000399084.5:c.*715T>G	ENSP00000382034.1:n.*715T>G
ENST00000434651.6:c.*715T>G	ENSP00000407332.2:n.*715T>G
ENST00000487676.1:n.4590T>G
NM_001243961.1:c.*715T>G	NP_001230890.1:n.*715T>G
NM_002123.4:c.*715T>G	NP_002114.3:n.*715T>G
NM_001243961.2:c.*715T>G	NP_001230890.1:n.*715T>G
NM_002123.5:c.*715T>G MANE Select	NP_002114.3:n.*715T>G