Canonical Allele Identifier: CA3710881

Gene: HLA-C

Linked Data

• dbSNP Id: rs1255775232
• ExAC: 6:31239450 T / A
• gnomAD v2: 6-31239450-T-A
• gnomAD v3: 6-31271673-T-A
• gnomAD v4: 6-31271673-T-A
• COSMIC: COSM5094128
• MyVariant Identifiers: chr6:g.31239450T>A (hg19) ; chr6:g.31239450_31239452delinsATC (hg19) ; chr6:g.31271673T>A (hg38) ; chr6:g.31271673_31271675delinsATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271673T>A , CM000668.2:g.31271673T>A	GRCh38
NC_000006.11:g.31239450T>A , CM000668.1:g.31239450T>A	GRCh37
NC_000006.10:g.31347429T>A	NCBI36
NG_029422.2:g.5459A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.269A>T MANE Select	ENSP00000365402.5:p.Lys90Met
ENST00000376228.9:c.269A>T	ENSP00000365402.5:p.Lys90Met
ENST00000376237.8:c.269A>T	ENSP00000365412.4:p.Lys90Met
ENST00000383329.7:c.269A>T	ENSP00000372819.3:p.Lys90Met
ENST00000415537.1:c.267A>T
ENST00000484378.1:n.288A>T
ENST00000487245.5:n.378A>T
ENST00000495835.1:n.458A>T
NM_002117.5:c.269A>T	NP_002108.4:p.Lys90Met
NM_002117.6:c.269A>T MANE Select	NP_002108.4:p.Lys90Met