Canonical Allele Identifier: CA2677949159
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31268940-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268940C>T , CM000668.2:g.31268940C>T GRCh38
NC_000006.11:g.31236717C>T , CM000668.1:g.31236717C>T GRCh37
NC_000006.10:g.31344696C>T NCBI36
NG_029422.2:g.8192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*229G>A MANE Select ENSP00000365402.5:n.*229G>A
ENST00000376228.9:c.*229G>A ENSP00000365402.5:n.*229G>A
ENST00000376237.8:c.*917G>A ENSP00000365412.4:n.*917G>A
ENST00000383329.7:c.*229G>A ENSP00000372819.3:n.*229G>A
ENST00000466892.5:n.563G>A
ENST00000470363.5:n.1088G>A
ENST00000487245.5:n.1689G>A
NM_002117.5:c.*229G>A NP_002108.4:n.*229G>A
NM_002117.6:c.*229G>A MANE Select NP_002108.4:n.*229G>A