Canonical Allele Identifier: CA363893996
Gene: HLA-DQB1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32665055A>C
GRCh37 chr6:g.32632832A>C
Revel Score:
ENST00000399079 0.116
ENST00000374943 0.116
ENST00000434651 (MANE Select) 0.116
ENST00000399084 0.116
gnomAD v2:
6:32632832 A / C
gnomAD v3:
6:32665055 A / C
gnomAD v4:
chr6-32665055-A-C
Joint Max Group AF 3.4e-7 (NFE)
dbSNP:
9274407
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32665055A>C , CM000668.2:g.32665055A>C GRCh38
NC_000006.11:g.32632832A>C , CM000668.1:g.32632832A>C GRCh37
NC_000006.10:g.32740810A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.122T>G MANE Select ENSP00000407332.2:p.Phe41Cys
ENST00000374943.8:c.122T>G ENSP00000364080.4:p.Phe41Cys
ENST00000399079.7:c.122T>G ENSP00000382029.3:p.Phe41Cys
ENST00000399082.7:c.109+1444T>G ENSP00000382032.3:n.109+1444T>G
ENST00000399084.5:c.122T>G ENSP00000382034.1:p.Phe41Cys
ENST00000434651.6:c.122T>G ENSP00000407332.2:p.Phe41Cys
ENST00000484729.2:c.122T>G ENSP00000436686.1:p.Phe41Cys
ENST00000487676.1:n.153T>G
NM_001243961.1:c.122T>G NP_001230890.1:p.Phe41Cys
NM_002123.4:c.122T>G NP_002114.3:p.Phe41Cys
NM_001243961.2:c.122T>G NP_001230890.1:p.Phe41Cys
NM_002123.5:c.122T>G MANE Select NP_002114.3:p.Phe41Cys
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