Canonical Allele Identifier: CA136868853
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1065385
gnomAD v2: 6-31239460-C-G
gnomAD v3: 6-31271683-C-G
gnomAD v4: 6-31271683-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271683C>G , CM000668.2:g.31271683C>G GRCh38
NC_000006.11:g.31239460C>G , CM000668.1:g.31239460C>G GRCh37
NC_000006.10:g.31347439C>G NCBI36
NG_029422.2:g.5449G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.259G>C MANE Select ENSP00000365402.5:p.Glu87Gln
ENST00000376228.9:c.259G>C ENSP00000365402.5:p.Glu87Gln
ENST00000376237.8:c.259G>C ENSP00000365412.4:p.Glu87Gln
ENST00000383329.7:c.259G>C ENSP00000372819.3:p.Glu87Gln
ENST00000415537.1:c.257G>C
ENST00000484378.1:n.278G>C
ENST00000487245.5:n.368G>C
ENST00000495835.1:n.448G>C
NM_002117.5:c.259G>C NP_002108.4:p.Glu87Gln
NM_002117.6:c.259G>C MANE Select NP_002108.4:p.Glu87Gln