Canonical Allele Identifier: CA3711262

Gene: HLA-B

Linked Data

• ClinVar Variation Id: 752503
• ClinVar RCV Id: RCV000929649
• dbSNP Id: rs2308518
• ExAC: 6:31322915 G / A
• gnomAD v2: 6-31322915-G-A
• gnomAD v3: 6-31355138-G-A
• gnomAD v4: 6-31355138-G-A
• MyVariant Identifiers: chr6:g.31322915G>A (hg19) ; chr6:g.31355138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31355138G>A , CM000668.2:g.31355138G>A	GRCh38
NC_000006.11:g.31322915G>A , CM000668.1:g.31322915G>A	GRCh37
NC_000006.10:g.31430894G>A	NCBI36
NG_023187.1:g.7075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.3028C>T
ENST00000481849.6:n.2547C>T
ENST00000497377.6:n.2454C>T
ENST00000640094.2:c.895+179C>T	ENSP00000491275.2:n.895+179C>T
ENST00000696558.1:c.1050C>T	ENSP00000512716.1:n.1050C>T
ENST00000696559.1:c.981C>T	ENSP00000512717.1:p.Val327=
ENST00000696560.1:c.981C>T	ENSP00000512718.1:p.Val327=
ENST00000696561.1:c.981C>T	ENSP00000512719.1:p.Val327=
ENST00000696562.1:c.981C>T	ENSP00000512720.1:p.Val327=
ENST00000412585.7:c.981C>T MANE Select	ENSP00000399168.2:p.Val327=
ENST00000640094.1:c.88+179C>T	ENSP00000491275.1:n.88+179C>T
ENST00000412585.6:c.981C>T	ENSP00000399168.2:p.Val327=
ENST00000463574.1:n.572C>T
NM_005514.6:c.981C>T	NP_005505.2:p.Val327=
XM_011514556.1:c.1014C>T	XP_011512858.1:p.Val338=
XM_011514557.1:c.895+179C>T	XP_011512859.1:n.895+179C>T
XR_926175.1:n.1420C>T
NM_005514.7:c.981C>T	NP_005505.2:p.Val327=
NM_005514.8:c.981C>T MANE Select	NP_005505.2:p.Val327=