Canonical Allele Identifier: CA363892418
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1168937188
gnomAD v2: 6-31324464-C-T
gnomAD v3: 6-31356687-C-T
gnomAD v4: 6-31356687-C-T
COSMIC: COSM127127

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31356687C>T , CM000668.2:g.31356687C>T GRCh38
NC_000006.11:g.31324464C>T , CM000668.1:g.31324464C>T GRCh37
NC_000006.10:g.31432443C>T NCBI36
NG_023187.1:g.5526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.1816+1G>A
ENST00000481849.6:n.1816+1G>A
ENST00000497377.6:n.1816+1G>A
ENST00000640094.2:c.343+1G>A ENSP00000491275.2:n.343+1G>A
ENST00000696558.1:c.343+1G>A ENSP00000512716.1:n.343+1G>A
ENST00000696559.1:c.343+1G>A ENSP00000512717.1:n.343+1G>A
ENST00000696560.1:c.343+1G>A ENSP00000512718.1:n.343+1G>A
ENST00000696561.1:c.343+1G>A ENSP00000512719.1:n.343+1G>A
ENST00000696562.1:c.343+1G>A ENSP00000512720.1:n.343+1G>A
ENST00000412585.7:c.343+1G>A MANE Select ENSP00000399168.2:n.343+1G>A
ENST00000412585.6:c.343+1G>A ENSP00000399168.2:n.343+1G>A
ENST00000434333.1:c.376+1G>A ENSP00000405931.1:n.376+1G>A
ENST00000474381.1:n.218+1G>A
ENST00000498007.1:n.365G>A
ENST00000603274.1:n.41C>T
NM_005514.6:c.343+1G>A NP_005505.2:n.343+1G>A
XM_011514556.1:c.376+1G>A XP_011512858.1:n.376+1G>A
XM_011514557.1:c.343+1G>A XP_011512859.1:n.343+1G>A
XR_926175.1:n.353+1G>A
NM_005514.7:c.343+1G>A NP_005505.2:n.343+1G>A
NM_005514.8:c.343+1G>A MANE Select NP_005505.2:n.343+1G>A