Canonical Allele Identifier: CA363319200
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269344-A-C
gnomAD v4: 6-31269344-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269344A>C , CM000668.2:g.31269344A>C GRCh38
NC_000006.11:g.31237121A>C , CM000668.1:g.31237121A>C GRCh37
NC_000006.10:g.31345100A>C NCBI36
NG_029422.2:g.7788T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1090T>G MANE Select ENSP00000365402.5:p.Cys364Gly
ENST00000376228.9:c.1090T>G ENSP00000365402.5:p.Cys364Gly
ENST00000376237.8:c.*677T>G ENSP00000365412.4:n.*677T>G
ENST00000383329.7:c.1108T>G ENSP00000372819.3:p.Cys370Gly
ENST00000466892.5:n.323T>G
ENST00000470363.5:n.848T>G
ENST00000487245.5:n.1449T>G
NM_002117.5:c.1090T>G NP_002108.4:p.Cys364Gly
NM_002117.6:c.1090T>G MANE Select NP_002108.4:p.Cys364Gly