Canonical Allele Identifier: CA3711275
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs776303815
gnomAD v2: 6-31322944-G-C
gnomAD v4: 6-31355167-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355167G>C , CM000668.2:g.31355167G>C GRCh38
NC_000006.11:g.31322944G>C , CM000668.1:g.31322944G>C GRCh37
NC_000006.10:g.31430923G>C NCBI36
NG_023187.1:g.7046C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.2999C>G
ENST00000481849.6:n.2518C>G
ENST00000497377.6:n.2425C>G
ENST00000640094.2:c.895+150C>G ENSP00000491275.2:n.895+150C>G
ENST00000696558.1:c.1021C>G ENSP00000512716.1:n.1021C>G
ENST00000696559.1:c.952C>G ENSP00000512717.1:p.Leu318Val
ENST00000696560.1:c.952C>G ENSP00000512718.1:p.Leu318Val
ENST00000696561.1:c.952C>G ENSP00000512719.1:p.Leu318Val
ENST00000696562.1:c.952C>G ENSP00000512720.1:p.Leu318Val
ENST00000412585.7:c.952C>G MANE Select ENSP00000399168.2:p.Leu318Val
ENST00000640094.1:c.88+150C>G ENSP00000491275.1:n.88+150C>G
ENST00000412585.6:c.952C>G ENSP00000399168.2:p.Leu318Val
ENST00000463574.1:n.543C>G
NM_005514.6:c.952C>G NP_005505.2:p.Leu318Val
XM_011514556.1:c.985C>G XP_011512858.1:p.Leu329Val
XM_011514557.1:c.895+150C>G XP_011512859.1:n.895+150C>G
XR_926175.1:n.1391C>G
NM_005514.7:c.952C>G NP_005505.2:p.Leu318Val
NM_005514.8:c.952C>G MANE Select NP_005505.2:p.Leu318Val