Canonical Allele Identifier: CA566336262
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1378456820
gnomAD v2: 6-31236772-G-A
gnomAD v3: 6-31268995-G-A
gnomAD v4: 6-31268995-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268995G>A , CM000668.2:g.31268995G>A GRCh38
NC_000006.11:g.31236772G>A , CM000668.1:g.31236772G>A GRCh37
NC_000006.10:g.31344751G>A NCBI36
NG_029422.2:g.8137C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*174C>T MANE Select ENSP00000365402.5:n.*174C>T
ENST00000376228.9:c.*174C>T ENSP00000365402.5:n.*174C>T
ENST00000376237.8:c.*862C>T ENSP00000365412.4:n.*862C>T
ENST00000383329.7:c.*174C>T ENSP00000372819.3:n.*174C>T
ENST00000466892.5:n.508C>T
ENST00000470363.5:n.1033C>T
ENST00000487245.5:n.1634C>T
NM_002117.5:c.*174C>T NP_002108.4:n.*174C>T
NM_002117.6:c.*174C>T MANE Select NP_002108.4:n.*174C>T