Canonical Allele Identifier: CA3711348

Gene: HLA-B

Linked Data

• dbSNP Id: rs41558116
• ExAC: 6:31323175 C / T
• gnomAD v2: 6-31323175-C-T
• gnomAD v3: 6-31355398-C-T
• gnomAD v4: 6-31355398-C-T
• MyVariant Identifiers: chr6:g.31323175C>T (hg19) ; chr6:g.31355398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31355398C>T , CM000668.2:g.31355398C>T	GRCh38
NC_000006.11:g.31323175C>T , CM000668.1:g.31323175C>T	GRCh37
NC_000006.10:g.31431154C>T	NCBI36
NG_023187.1:g.6815G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.2861G>A
ENST00000481849.6:n.2287G>A
ENST00000497377.6:n.2287G>A
ENST00000640094.2:c.814G>A	ENSP00000491275.2:p.Val272Met
ENST00000696558.1:c.883G>A	ENSP00000512716.1:n.883G>A
ENST00000696559.1:c.814G>A	ENSP00000512717.1:p.Val272Met
ENST00000696560.1:c.814G>A	ENSP00000512718.1:p.Val272Met
ENST00000696561.1:c.814G>A	ENSP00000512719.1:p.Val272Met
ENST00000696562.1:c.814G>A	ENSP00000512720.1:p.Val272Met
ENST00000412585.7:c.814G>A MANE Select	ENSP00000399168.2:p.Val272Met
ENST00000640094.1:c.7G>A	ENSP00000491275.1:p.Val3Met
ENST00000412585.6:c.814G>A	ENSP00000399168.2:p.Val272Met
ENST00000463574.1:n.405G>A
ENST00000498007.1:n.1080G>A
NM_005514.6:c.814G>A	NP_005505.2:p.Val272Met
XM_011514556.1:c.847G>A	XP_011512858.1:p.Val283Met
XM_011514557.1:c.814G>A	XP_011512859.1:p.Val272Met
XR_926175.1:n.1253G>A
NM_005514.7:c.814G>A	NP_005505.2:p.Val272Met
NM_005514.8:c.814G>A MANE Select	NP_005505.2:p.Val272Met