Canonical Allele Identifier: CA449599571

Gene: HLA-B

Linked Data

• ClinVar Variation Id: 739489
• ClinVar RCV Id: RCV000915459
• dbSNP Id: rs1582538797
• gnomAD v4: 6-31354498-C-A
• MyVariant Identifiers: chr6:g.31322275C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31354498C>A , CM000668.2:g.31354498C>A	GRCh38
NC_000006.11:g.31322275C>A , CM000668.1:g.31322275C>A	GRCh37
NC_000006.10:g.31430254C>A	NCBI36
NG_023187.1:g.7715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.3121G>T
ENST00000481849.6:n.3081G>T
ENST00000497377.6:n.2988G>T
ENST00000640094.2:c.957G>T	ENSP00000491275.2:p.Val319=
ENST00000696558.1:c.1143G>T	ENSP00000512716.1:n.1143G>T
ENST00000696559.1:c.1074G>T	ENSP00000512717.1:p.Val358=
ENST00000696560.1:c.1074G>T	ENSP00000512718.1:p.Val358=
ENST00000696561.1:c.1074G>T	ENSP00000512719.1:p.Val358=
ENST00000696562.1:c.1074G>T	ENSP00000512720.1:p.Val358=
ENST00000412585.7:c.1074G>T MANE Select	ENSP00000399168.2:p.Val358=
ENST00000412585.6:c.1074G>T	ENSP00000399168.2:p.Val358=
ENST00000481849.5:n.309G>T
ENST00000497377.5:n.473G>T
NM_005514.6:c.1074G>T	NP_005505.2:p.Val358=
XM_011514556.1:c.1107G>T	XP_011512858.1:p.Val369=
XM_011514557.1:c.957G>T	XP_011512859.1:p.Val319=
XR_926175.1:n.1513G>T
NM_005514.7:c.1074G>T	NP_005505.2:p.Val358=
NM_005514.8:c.1074G>T MANE Select	NP_005505.2:p.Val358=