Canonical Allele Identifier: CA136867013
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs45622747
gnomAD v3: 6-31271196-T-C
gnomAD v4: 6-31271196-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271196T>C , CM000668.2:g.31271196T>C GRCh38
NC_000006.11:g.31238973T>C , CM000668.1:g.31238973T>C GRCh37
NC_000006.10:g.31346952T>C NCBI36
NG_029422.2:g.5936A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.496A>G MANE Select ENSP00000365402.5:p.Ile166Val
ENST00000376228.9:c.496A>G ENSP00000365402.5:p.Ile166Val
ENST00000376237.8:c.*83A>G ENSP00000365412.4:n.*83A>G
ENST00000383329.7:c.496A>G ENSP00000372819.3:p.Ile166Val
ENST00000415537.1:c.494A>G
ENST00000484378.1:n.765A>G
ENST00000487245.5:n.855A>G
ENST00000495835.1:n.685A>G
NM_002117.5:c.496A>G NP_002108.4:p.Ile166Val
NM_002117.6:c.496A>G MANE Select NP_002108.4:p.Ile166Val