Canonical Allele Identifier: CA363321283
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270339-C-G
gnomAD v4: 6-31270339-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270339C>G , CM000668.2:g.31270339C>G GRCh38
NC_000006.11:g.31238116C>G , CM000668.1:g.31238116C>G GRCh37
NC_000006.10:g.31346095C>G NCBI36
NG_029422.2:g.6793G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.766G>C MANE Select ENSP00000365402.5:p.Glu256Gln
ENST00000376228.9:c.766G>C ENSP00000365402.5:p.Glu256Gln
ENST00000376237.8:c.*353G>C ENSP00000365412.4:n.*353G>C
ENST00000383329.7:c.766G>C ENSP00000372819.3:p.Glu256Gln
ENST00000415537.1:c.665-8G>C
ENST00000470363.5:n.84G>C
ENST00000487245.5:n.1125G>C
ENST00000495835.1:n.955G>C
NM_002117.5:c.766G>C NP_002108.4:p.Glu256Gln
NM_002117.6:c.766G>C MANE Select NP_002108.4:p.Glu256Gln