Canonical Allele Identifier: CA3710670
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs138584390
gnomAD v2: 6-31238899-C-G
gnomAD v3: 6-31271122-C-G
gnomAD v4: 6-31271122-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271122C>G , CM000668.2:g.31271122C>G GRCh38
NC_000006.11:g.31238899C>G , CM000668.1:g.31238899C>G GRCh37
NC_000006.10:g.31346878C>G NCBI36
NG_029422.2:g.6010G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.570G>C MANE Select ENSP00000365402.5:p.Glu190Asp
ENST00000376228.9:c.570G>C ENSP00000365402.5:p.Glu190Asp
ENST00000376237.8:c.*157G>C ENSP00000365412.4:n.*157G>C
ENST00000383329.7:c.570G>C ENSP00000372819.3:p.Glu190Asp
ENST00000415537.1:c.568G>C
ENST00000484378.1:n.839G>C
ENST00000487245.5:n.929G>C
ENST00000495835.1:n.759G>C
NM_002117.5:c.570G>C NP_002108.4:p.Glu190Asp
NM_002117.6:c.570G>C MANE Select NP_002108.4:p.Glu190Asp