Canonical Allele Identifier: CA363308040

Gene: HLA-B

Linked Data

• gnomAD v4: 6-31354525-G-C
• COSMIC: COSM3684210
• MyVariant Identifiers: chr6:g.31322302G>C (hg19) ; chr6:g.31354525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31354525G>C , CM000668.2:g.31354525G>C	GRCh38
NC_000006.11:g.31322302G>C , CM000668.1:g.31322302G>C	GRCh37
NC_000006.10:g.31430281G>C	NCBI36
NG_023187.1:g.7688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.3094C>G
ENST00000481849.6:n.3054C>G
ENST00000497377.6:n.2961C>G
ENST00000640094.2:c.930C>G	ENSP00000491275.2:p.Cys310Trp
ENST00000696558.1:c.1116C>G	ENSP00000512716.1:n.1116C>G
ENST00000696559.1:c.1047C>G	ENSP00000512717.1:p.Cys349Trp
ENST00000696560.1:c.1047C>G	ENSP00000512718.1:p.Cys349Trp
ENST00000696561.1:c.1047C>G	ENSP00000512719.1:p.Cys349Trp
ENST00000696562.1:c.1047C>G	ENSP00000512720.1:p.Cys349Trp
ENST00000412585.7:c.1047C>G MANE Select	ENSP00000399168.2:p.Cys349Trp
ENST00000640094.1:c.123C>G	ENSP00000491275.1:p.Cys41Trp
ENST00000412585.6:c.1047C>G	ENSP00000399168.2:p.Cys349Trp
ENST00000481849.5:n.282C>G
ENST00000497377.5:n.446C>G
NM_005514.6:c.1047C>G	NP_005505.2:p.Cys349Trp
XM_011514556.1:c.1080C>G	XP_011512858.1:p.Cys360Trp
XM_011514557.1:c.930C>G	XP_011512859.1:p.Cys310Trp
XR_926175.1:n.1486C>G
NM_005514.7:c.1047C>G	NP_005505.2:p.Cys349Trp
NM_005514.8:c.1047C>G MANE Select	NP_005505.2:p.Cys349Trp