Canonical Allele Identifier: CA3710880
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs28626310
gnomAD v2: 6-31239449-C-G
gnomAD v3: 6-31271672-C-G
gnomAD v4: 6-31271672-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271672C>G , CM000668.2:g.31271672C>G GRCh38
NC_000006.11:g.31239449C>G , CM000668.1:g.31239449C>G GRCh37
NC_000006.10:g.31347428C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.270G>C MANE Select ENSP00000365402.5:p.Lys90Asn
ENST00000376228.9:c.270G>C ENSP00000365402.5:p.Lys90Asn
ENST00000376237.8:c.270G>C ENSP00000365412.4:p.Lys90Asn
ENST00000383329.7:c.270G>C ENSP00000372819.3:p.Lys90Asn
ENST00000415537.1:c.268G>C
ENST00000484378.1:n.289G>C
ENST00000487245.5:n.379G>C
ENST00000495835.1:n.459G>C
NM_002117.5:c.270G>C NP_002108.4:p.Lys90Asn
NM_002117.6:c.270G>C MANE Select NP_002108.4:p.Lys90Asn