Canonical Allele Identifier: CA363322448

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31270427-C-G
• MyVariant Identifiers: chr6:g.31238204C>G (hg19) ; chr6:g.31270427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270427C>G , CM000668.2:g.31270427C>G	GRCh38
NC_000006.11:g.31238204C>G , CM000668.1:g.31238204C>G	GRCh37
NC_000006.10:g.31346183C>G	NCBI36
NG_029422.2:g.6705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.678G>C MANE Select	ENSP00000365402.5:p.Arg226Ser
ENST00000376228.9:c.678G>C	ENSP00000365402.5:p.Arg226Ser
ENST00000376237.8:c.*265G>C	ENSP00000365412.4:n.*265G>C
ENST00000383329.7:c.678G>C	ENSP00000372819.3:p.Arg226Ser
ENST00000415537.1:c.664+12G>C
ENST00000487245.5:n.1037G>C
ENST00000495835.1:n.867G>C
NM_002117.5:c.678G>C	NP_002108.4:p.Arg226Ser
NM_002117.6:c.678G>C MANE Select	NP_002108.4:p.Arg226Ser