Canonical Allele Identifier: CA2677949290
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269046-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269046T>G , CM000668.2:g.31269046T>G GRCh38
NC_000006.11:g.31236823T>G , CM000668.1:g.31236823T>G GRCh37
NC_000006.10:g.31344802T>G NCBI36
NG_029422.2:g.8086A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*123A>C MANE Select ENSP00000365402.5:n.*123A>C
ENST00000376228.9:c.*123A>C ENSP00000365402.5:n.*123A>C
ENST00000376237.8:c.*811A>C ENSP00000365412.4:n.*811A>C
ENST00000383329.7:c.*123A>C ENSP00000372819.3:n.*123A>C
ENST00000466892.5:n.457A>C
ENST00000470363.5:n.982A>C
ENST00000487245.5:n.1583A>C
NM_002117.5:c.*123A>C NP_002108.4:n.*123A>C
NM_002117.6:c.*123A>C MANE Select NP_002108.4:n.*123A>C