Canonical Allele Identifier: CA2677949794
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269517-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269521dup , CM000668.2:g.31269521dup GRCh38
NC_000006.11:g.31237298dup , CM000668.1:g.31237298dup GRCh37
NC_000006.10:g.31345277dup NCBI36
NG_029422.2:g.7614dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1023dup MANE Select ENSP00000365402.5:p.Gly342ArgfsTer17
ENST00000376228.9:c.1023dup ENSP00000365402.5:p.Gly342ArgfsTer17
ENST00000376237.8:c.*610dup ENSP00000365412.4:n.*610dup
ENST00000383329.7:c.1041dup ENSP00000372819.3:p.Gly348ArgfsTer17
ENST00000466892.5:n.149dup
ENST00000470363.5:n.781dup
ENST00000487245.5:n.1382dup
NM_002117.5:c.1023dup NP_002108.4:p.Gly342ArgfsTer17
NM_002117.6:c.1023dup MANE Select NP_002108.4:p.Gly342ArgfsTer17
Search 100 bp 5'
Search 100 bp 3'