Canonical Allele Identifier: CA363320869
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1761212185
gnomAD v3: 6-31270301-C-A
gnomAD v4: 6-31270301-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270301C>A , CM000668.2:g.31270301C>A GRCh38
NC_000006.11:g.31238078C>A , CM000668.1:g.31238078C>A GRCh37
NC_000006.10:g.31346057C>A NCBI36
NG_029422.2:g.6831G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.804G>T MANE Select ENSP00000365402.5:p.Trp268Cys
ENST00000376228.9:c.804G>T ENSP00000365402.5:p.Trp268Cys
ENST00000376237.8:c.*391G>T ENSP00000365412.4:n.*391G>T
ENST00000383329.7:c.804G>T ENSP00000372819.3:p.Trp268Cys
ENST00000415537.1:c.695G>T
ENST00000470363.5:n.122G>T
ENST00000487245.5:n.1163G>T
ENST00000495835.1:n.993G>T
NM_002117.5:c.804G>T NP_002108.4:p.Trp268Cys
NM_002117.6:c.804G>T MANE Select NP_002108.4:p.Trp268Cys