Canonical Allele Identifier: CA2677949700
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269416-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269416A>C , CM000668.2:g.31269416A>C GRCh38
NC_000006.11:g.31237193A>C , CM000668.1:g.31237193A>C GRCh37
NC_000006.10:g.31345172A>C NCBI36
NG_029422.2:g.7716T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1049-31T>G MANE Select ENSP00000365402.5:n.1049-31T>G
ENST00000376228.9:c.1049-31T>G ENSP00000365402.5:n.1049-31T>G
ENST00000376237.8:c.*636-31T>G ENSP00000365412.4:n.*636-31T>G
ENST00000383329.7:c.1067-31T>G ENSP00000372819.3:n.1067-31T>G
ENST00000466892.5:n.251T>G
ENST00000470363.5:n.807-31T>G
ENST00000487245.5:n.1408-31T>G
NM_002117.5:c.1049-31T>G NP_002108.4:n.1049-31T>G
NM_002117.6:c.1049-31T>G MANE Select NP_002108.4:n.1049-31T>G