Canonical Allele Identifier: CA363320688
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270275-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270275T>C , CM000668.2:g.31270275T>C GRCh38
NC_000006.11:g.31238052T>C , CM000668.1:g.31238052T>C GRCh37
NC_000006.10:g.31346031T>C NCBI36
NG_029422.2:g.6857A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.830A>G MANE Select ENSP00000365402.5:p.Gln277Arg
ENST00000376228.9:c.830A>G ENSP00000365402.5:p.Gln277Arg
ENST00000376237.8:c.*417A>G ENSP00000365412.4:n.*417A>G
ENST00000383329.7:c.830A>G ENSP00000372819.3:p.Gln277Arg
ENST00000415537.1:c.721A>G
ENST00000470363.5:n.148A>G
ENST00000487245.5:n.1189A>G
ENST00000495835.1:n.1019A>G
NM_002117.5:c.830A>G NP_002108.4:p.Gln277Arg
NM_002117.6:c.830A>G MANE Select NP_002108.4:p.Gln277Arg