Canonical Allele Identifier: CA363322371

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31270416-A-T
• MyVariant Identifiers: chr6:g.31238193A>T (hg19) ; chr6:g.31270416A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270416A>T , CM000668.2:g.31270416A>T	GRCh38
NC_000006.11:g.31238193A>T , CM000668.1:g.31238193A>T	GRCh37
NC_000006.10:g.31346172A>T	NCBI36
NG_029422.2:g.6716T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.689T>A MANE Select	ENSP00000365402.5:p.Leu230Gln
ENST00000376228.9:c.689T>A	ENSP00000365402.5:p.Leu230Gln
ENST00000376237.8:c.*276T>A	ENSP00000365412.4:n.*276T>A
ENST00000383329.7:c.689T>A	ENSP00000372819.3:p.Leu230Gln
ENST00000415537.1:c.664+23T>A
ENST00000470363.5:n.7T>A
ENST00000487245.5:n.1048T>A
ENST00000495835.1:n.878T>A
NM_002117.5:c.689T>A	NP_002108.4:p.Leu230Gln
NM_002117.6:c.689T>A MANE Select	NP_002108.4:p.Leu230Gln