Canonical Allele Identifier: CA3710218
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs193100294
gnomAD v2: 6-31236899-A-G
gnomAD v3: 6-31269122-A-G
gnomAD v4: 6-31269122-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269122A>G , CM000668.2:g.31269122A>G GRCh38
NC_000006.11:g.31236899A>G , CM000668.1:g.31236899A>G GRCh37
NC_000006.10:g.31344878A>G NCBI36
NG_029422.2:g.8010T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*47T>C MANE Select ENSP00000365402.5:n.*47T>C
ENST00000376228.9:c.*47T>C ENSP00000365402.5:n.*47T>C
ENST00000376237.8:c.*735T>C ENSP00000365412.4:n.*735T>C
ENST00000383329.7:c.*47T>C ENSP00000372819.3:n.*47T>C
ENST00000466892.5:n.381T>C
ENST00000470363.5:n.906T>C
ENST00000487245.5:n.1507T>C
NM_002117.5:c.*47T>C NP_002108.4:n.*47T>C
NM_002117.6:c.*47T>C MANE Select NP_002108.4:n.*47T>C