Canonical Allele Identifier: CA1087448992
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269119-A-C
gnomAD v4: 6-31269119-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269119A>C , CM000668.2:g.31269119A>C GRCh38
NC_000006.11:g.31236896A>C , CM000668.1:g.31236896A>C GRCh37
NC_000006.10:g.31344875A>C NCBI36
NG_029422.2:g.8013T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*50T>G MANE Select ENSP00000365402.5:n.*50T>G
ENST00000376228.9:c.*50T>G ENSP00000365402.5:n.*50T>G
ENST00000376237.8:c.*738T>G ENSP00000365412.4:n.*738T>G
ENST00000383329.7:c.*50T>G ENSP00000372819.3:n.*50T>G
ENST00000466892.5:n.384T>G
ENST00000470363.5:n.909T>G
ENST00000487245.5:n.1510T>G
NM_002117.5:c.*50T>G NP_002108.4:n.*50T>G
NM_002117.6:c.*50T>G MANE Select NP_002108.4:n.*50T>G