Canonical Allele Identifier: CA363319467

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269519-T-A
• MyVariant Identifiers: chr6:g.31237296T>A (hg19) ; chr6:g.31269519T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269519T>A , CM000668.2:g.31269519T>A	GRCh38
NC_000006.11:g.31237296T>A , CM000668.1:g.31237296T>A	GRCh37
NC_000006.10:g.31345275T>A	NCBI36
NG_029422.2:g.7613A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1022A>T MANE Select	ENSP00000365402.5:p.Lys341Ile
ENST00000376228.9:c.1022A>T	ENSP00000365402.5:p.Lys341Ile
ENST00000376237.8:c.*609A>T	ENSP00000365412.4:n.*609A>T
ENST00000383329.7:c.1040A>T	ENSP00000372819.3:p.Lys347Ile
ENST00000466892.5:n.148A>T
ENST00000470363.5:n.780A>T
ENST00000487245.5:n.1381A>T
NM_002117.5:c.1022A>T	NP_002108.4:p.Lys341Ile
NM_002117.6:c.1022A>T MANE Select	NP_002108.4:p.Lys341Ile