Canonical Allele Identifier: CA3710798

Gene: HLA-C

Linked Data

• dbSNP Id: rs769608795
• ExAC: 6:31239115 GGT / G
• gnomAD v2: 6-31239115-GGT-G
• gnomAD v4: 6-31271338-GGT-G
• COSMIC: COSM5153878
• MyVariant Identifiers: chr6:g.31239116_31239117del (hg19) ; chr6:g.31271339_31271340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271342_31271343del , CM000668.2:g.31271342_31271343del	GRCh38
NC_000006.11:g.31239119_31239120del , CM000668.1:g.31239119_31239120del	GRCh37
NC_000006.10:g.31347098_31347099del	NCBI36
NG_029422.2:g.5792_5793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.352_353del MANE Select	ENSP00000365402.5:p.Thr118ProfsTer20
ENST00000376228.9:c.352_353del	ENSP00000365402.5:p.Thr118ProfsTer20
ENST00000376237.8:c.344-9_344-8del	ENSP00000365412.4:n.344-9_344-8del
ENST00000383329.7:c.352_353del	ENSP00000372819.3:p.Thr118ProfsTer20
ENST00000415537.1:c.350_351del
ENST00000484378.1:n.621_622del
ENST00000487245.5:n.711_712del
ENST00000495835.1:n.541_542del
NM_002117.5:c.352_353del	NP_002108.4:p.Thr118ProfsTer20
NM_002117.6:c.352_353del MANE Select	NP_002108.4:p.Thr118ProfsTer20