Canonical Allele Identifier: CA2677949027
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31268854-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268854A>C , CM000668.2:g.31268854A>C GRCh38
NC_000006.11:g.31236631A>C , CM000668.1:g.31236631A>C GRCh37
NC_000006.10:g.31344610A>C NCBI36
NG_029422.2:g.8278T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*315T>G MANE Select ENSP00000365402.5:n.*315T>G
ENST00000376228.9:c.*315T>G ENSP00000365402.5:n.*315T>G
ENST00000376237.8:c.*1003T>G ENSP00000365412.4:n.*1003T>G
ENST00000383329.7:c.*315T>G ENSP00000372819.3:n.*315T>G
ENST00000466892.5:n.649T>G
ENST00000470363.5:n.1174T>G
ENST00000487245.5:n.1775T>G
NM_002117.5:c.*315T>G NP_002108.4:n.*315T>G
NM_002117.6:c.*315T>G MANE Select NP_002108.4:n.*315T>G