Canonical Allele Identifier: CA363309039
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs41273028
gnomAD v2: 6-31322971-C-A
gnomAD v3: 6-31355194-C-A
gnomAD v4: 6-31355194-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355194C>A , CM000668.2:g.31355194C>A GRCh38
NC_000006.11:g.31322971C>A , CM000668.1:g.31322971C>A GRCh37
NC_000006.10:g.31430950C>A NCBI36
NG_023187.1:g.7019G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2972G>T
ENST00000481849.6:n.2491G>T
ENST00000497377.6:n.2398G>T
ENST00000640094.2:c.895+123G>T ENSP00000491275.2:n.895+123G>T
ENST00000696558.1:c.994G>T ENSP00000512716.1:n.994G>T
ENST00000696559.1:c.925G>T ENSP00000512717.1:p.Val309Leu
ENST00000696560.1:c.925G>T ENSP00000512718.1:p.Val309Leu
ENST00000696561.1:c.925G>T ENSP00000512719.1:p.Val309Leu
ENST00000696562.1:c.925G>T ENSP00000512720.1:p.Val309Leu
ENST00000412585.7:c.925G>T MANE Select ENSP00000399168.2:p.Val309Leu
ENST00000640094.1:c.88+123G>T ENSP00000491275.1:n.88+123G>T
ENST00000412585.6:c.925G>T ENSP00000399168.2:p.Val309Leu
ENST00000463574.1:n.516G>T
NM_005514.6:c.925G>T NP_005505.2:p.Val309Leu
XM_011514556.1:c.958G>T XP_011512858.1:p.Val320Leu
XM_011514557.1:c.895+123G>T XP_011512859.1:n.895+123G>T
XR_926175.1:n.1364G>T
NM_005514.7:c.925G>T NP_005505.2:p.Val309Leu
NM_005514.8:c.925G>T MANE Select NP_005505.2:p.Val309Leu