Canonical Allele Identifier: CA363319609
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270002-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270002C>G , CM000668.2:g.31270002C>G GRCh38
NC_000006.11:g.31237779C>G , CM000668.1:g.31237779C>G GRCh37
NC_000006.10:g.31345758C>G NCBI36
NG_029422.2:g.7130G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.979G>C MANE Select ENSP00000365402.5:p.Val327Leu
ENST00000376228.9:c.979G>C ENSP00000365402.5:p.Val327Leu
ENST00000376237.8:c.*566G>C ENSP00000365412.4:n.*566G>C
ENST00000383329.7:c.979G>C ENSP00000372819.3:p.Val327Leu
ENST00000470363.5:n.297G>C
ENST00000487245.5:n.1338G>C
NM_002117.5:c.979G>C NP_002108.4:p.Val327Leu
NM_002117.6:c.979G>C MANE Select NP_002108.4:p.Val327Leu