Canonical Allele Identifier: CA2677949126
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31268920-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268920C>G , CM000668.2:g.31268920C>G GRCh38
NC_000006.11:g.31236697C>G , CM000668.1:g.31236697C>G GRCh37
NC_000006.10:g.31344676C>G NCBI36
NG_029422.2:g.8212G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*249G>C MANE Select ENSP00000365402.5:n.*249G>C
ENST00000376228.9:c.*249G>C ENSP00000365402.5:n.*249G>C
ENST00000376237.8:c.*937G>C ENSP00000365412.4:n.*937G>C
ENST00000383329.7:c.*249G>C ENSP00000372819.3:n.*249G>C
ENST00000466892.5:n.583G>C
ENST00000470363.5:n.1108G>C
ENST00000487245.5:n.1709G>C
NM_002117.5:c.*249G>C NP_002108.4:n.*249G>C
NM_002117.6:c.*249G>C MANE Select NP_002108.4:n.*249G>C
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