Canonical Allele Identifier: CA1087450468
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs9264596
gnomAD v3: 6-31269453-A-C
gnomAD v4: 6-31269453-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269453A>C , CM000668.2:g.31269453A>C GRCh38
NC_000006.11:g.31237230A>C , CM000668.1:g.31237230A>C GRCh37
NC_000006.10:g.31345209A>C NCBI36
NG_029422.2:g.7679T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1048+40T>G MANE Select ENSP00000365402.5:n.1048+40T>G
ENST00000376228.9:c.1048+40T>G ENSP00000365402.5:n.1048+40T>G
ENST00000376237.8:c.*635+40T>G ENSP00000365412.4:n.*635+40T>G
ENST00000383329.7:c.1066+40T>G ENSP00000372819.3:n.1066+40T>G
ENST00000466892.5:n.214T>G
ENST00000470363.5:n.806+40T>G
ENST00000487245.5:n.1407+40T>G
NM_002117.5:c.1048+40T>G NP_002108.4:n.1048+40T>G
NM_002117.6:c.1048+40T>G MANE Select NP_002108.4:n.1048+40T>G
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