Canonical Allele Identifier: CA363319477
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269523-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269523C>G , CM000668.2:g.31269523C>G GRCh38
NC_000006.11:g.31237300C>G , CM000668.1:g.31237300C>G GRCh37
NC_000006.10:g.31345279C>G NCBI36
NG_029422.2:g.7609G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1018G>C MANE Select ENSP00000365402.5:p.Gly340Arg
ENST00000376228.9:c.1018G>C ENSP00000365402.5:p.Gly340Arg
ENST00000376237.8:c.*605G>C ENSP00000365412.4:n.*605G>C
ENST00000383329.7:c.1036G>C ENSP00000372819.3:p.Gly346Arg
ENST00000466892.5:n.144G>C
ENST00000470363.5:n.776G>C
ENST00000487245.5:n.1377G>C
NM_002117.5:c.1018G>C NP_002108.4:p.Gly340Arg
NM_002117.6:c.1018G>C MANE Select NP_002108.4:p.Gly340Arg