Canonical Allele Identifier: CA1087448886
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31268907-C-A
gnomAD v4: 6-31268907-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268907C>A , CM000668.2:g.31268907C>A GRCh38
NC_000006.11:g.31236684C>A , CM000668.1:g.31236684C>A GRCh37
NC_000006.10:g.31344663C>A NCBI36
NG_029422.2:g.8225G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*262G>T MANE Select ENSP00000365402.5:n.*262G>T
ENST00000376228.9:c.*262G>T ENSP00000365402.5:n.*262G>T
ENST00000376237.8:c.*950G>T ENSP00000365412.4:n.*950G>T
ENST00000383329.7:c.*262G>T ENSP00000372819.3:n.*262G>T
ENST00000466892.5:n.596G>T
ENST00000470363.5:n.1121G>T
ENST00000487245.5:n.1722G>T
NM_002117.5:c.*262G>T NP_002108.4:n.*262G>T
NM_002117.6:c.*262G>T MANE Select NP_002108.4:n.*262G>T