Canonical Allele Identifier: CA3711605

Gene: HLA-B

Linked Data

• ClinVar Variation Id: 2656393
• ClinVar RCV Id: RCV003428800
• dbSNP Id: rs41558819
• ExAC: 6:31324166 G / A
• gnomAD v2: 6-31324166-G-A
• gnomAD v3: 6-31356389-G-A
• gnomAD v4: 6-31356389-G-A
• MyVariant Identifiers: chr6:g.31324166G>A (hg19) ; chr6:g.31356389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356389G>A , CM000668.2:g.31356389G>A	GRCh38
NC_000006.11:g.31324166G>A , CM000668.1:g.31324166G>A	GRCh37
NC_000006.10:g.31432145G>A	NCBI36
NG_023187.1:g.5824C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.1870C>T
ENST00000481849.6:n.1870C>T
ENST00000497377.6:n.1870C>T
ENST00000640094.2:c.397C>T	ENSP00000491275.2:p.Leu133Phe
ENST00000696558.1:c.397C>T	ENSP00000512716.1:p.Leu133Phe
ENST00000696559.1:c.397C>T	ENSP00000512717.1:p.Leu133Phe
ENST00000696560.1:c.397C>T	ENSP00000512718.1:p.Leu133Phe
ENST00000696561.1:c.397C>T	ENSP00000512719.1:p.Leu133Phe
ENST00000696562.1:c.397C>T	ENSP00000512720.1:p.Leu133Phe
ENST00000412585.7:c.397C>T MANE Select	ENSP00000399168.2:p.Leu133Phe
ENST00000412585.6:c.397C>T	ENSP00000399168.2:p.Leu133Phe
ENST00000434333.1:c.430C>T	ENSP00000405931.1:p.Leu144Phe
ENST00000474381.1:n.272C>T
ENST00000498007.1:n.663C>T
NM_005514.6:c.397C>T	NP_005505.2:p.Leu133Phe
XM_011514556.1:c.430C>T	XP_011512858.1:p.Leu144Phe
XM_011514557.1:c.397C>T	XP_011512859.1:p.Leu133Phe
XR_926175.1:n.407C>T
NM_005514.7:c.397C>T	NP_005505.2:p.Leu133Phe
NM_005514.8:c.397C>T MANE Select	NP_005505.2:p.Leu133Phe