Canonical Allele Identifier: CA363322745

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270459-G-T
• gnomAD v4: 6-31270459-G-T
• MyVariant Identifiers: chr6:g.31238236G>T (hg19) ; chr6:g.31270459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270459G>T , CM000668.2:g.31270459G>T	GRCh38
NC_000006.11:g.31238236G>T , CM000668.1:g.31238236G>T	GRCh37
NC_000006.10:g.31346215G>T	NCBI36
NG_029422.2:g.6673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.646C>A MANE Select	ENSP00000365402.5:p.His216Asn
ENST00000376228.9:c.646C>A	ENSP00000365402.5:p.His216Asn
ENST00000376237.8:c.*233C>A	ENSP00000365412.4:n.*233C>A
ENST00000383329.7:c.646C>A	ENSP00000372819.3:p.His216Asn
ENST00000415537.1:c.644C>A
ENST00000487245.5:n.1005C>A
ENST00000495835.1:n.835C>A
NM_002117.5:c.646C>A	NP_002108.4:p.His216Asn
NM_002117.6:c.646C>A MANE Select	NP_002108.4:p.His216Asn