Canonical Allele Identifier: CA3711162
Gene: HLA-B HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31354452A>G
GRCh37 chr6:g.31322229A>G
gnomAD v2:
6:31322229 A / G
gnomAD v3:
6:31354452 A / G
gnomAD v4:
chr6-31354452-A-G
Joint Max Group AF 0.29914955 (SAS)
Genomes Max Group AF 0.40608421 (AMR)
Exomes Max Group AF 0.29611195 (SAS)
dbSNP:
3819301
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354452A>G , CM000668.2:g.31354452A>G GRCh38
NC_000006.11:g.31322229A>G , CM000668.1:g.31322229A>G GRCh37
NC_000006.10:g.31430208A>G NCBI36
NG_023187.1:g.7761T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3140+27T>C
ENST00000481849.6:n.3100+27T>C
ENST00000497377.6:n.3007+27T>C
ENST00000696558.1:c.1162+27T>C ENSP00000512716.1:n.1162+27T>C
ENST00000696559.1:c.*4+27T>C ENSP00000512717.1:n.*4+27T>C
ENST00000696560.1:c.*4+27T>C ENSP00000512718.1:n.*4+27T>C
ENST00000696561.1:c.*4+27T>C ENSP00000512719.1:n.*4+27T>C
ENST00000696562.1:c.*4+27T>C ENSP00000512720.1:n.*4+27T>C
ENST00000412585.7:c.*4+27T>C MANE Select ENSP00000399168.2:n.*4+27T>C
ENST00000412585.6:c.*4+27T>C ENSP00000399168.2:n.*4+27T>C
ENST00000481849.5:n.328+27T>C
ENST00000497377.5:n.492+27T>C
NM_005514.6:c.*4+27T>C NP_005505.2:n.*4+27T>C
XM_011514556.1:c.*4+27T>C XP_011512858.1:n.*4+27T>C
XM_011514557.1:c.*4+27T>C XP_011512859.1:n.*4+27T>C
XR_926175.1:n.1532+27T>C
NM_005514.7:c.*4+27T>C NP_005505.2:n.*4+27T>C
NM_005514.8:c.*4+27T>C MANE Select NP_005505.2:n.*4+27T>C
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