Canonical Allele Identifier: CA566689009

Gene: HLA-C

Linked Data

• dbSNP Id: rs1232258638
• gnomAD v2: 6-31239175-C-T
• gnomAD v3: 6-31271398-C-T
• gnomAD v4: 6-31271398-C-T
• MyVariant Identifiers: chr6:g.31239175C>T (hg19) ; chr6:g.31271398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271398C>T , CM000668.2:g.31271398C>T	GRCh38
NC_000006.11:g.31239175C>T , CM000668.1:g.31239175C>T	GRCh37
NC_000006.10:g.31347154C>T	NCBI36
NG_029422.2:g.5734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.344-50G>A MANE Select	ENSP00000365402.5:n.344-50G>A
ENST00000376228.9:c.344-50G>A	ENSP00000365402.5:n.344-50G>A
ENST00000376237.8:c.344-67G>A	ENSP00000365412.4:n.344-67G>A
ENST00000383329.7:c.344-50G>A	ENSP00000372819.3:n.344-50G>A
ENST00000415537.1:c.342-50G>A
ENST00000484378.1:n.563G>A
ENST00000487245.5:n.653G>A
ENST00000495835.1:n.533-50G>A
NM_002117.5:c.344-50G>A	NP_002108.4:n.344-50G>A
NM_002117.6:c.344-50G>A MANE Select	NP_002108.4:n.344-50G>A