Canonical Allele Identifier: CA3710658
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs17413678
gnomAD v2: 6-31238866-C-G
gnomAD v3: 6-31271089-C-G
gnomAD v4: 6-31271089-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271089C>G , CM000668.2:g.31271089C>G GRCh38
NC_000006.11:g.31238866C>G , CM000668.1:g.31238866C>G GRCh37
NC_000006.10:g.31346845C>G NCBI36
NG_029422.2:g.6043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.603G>C MANE Select ENSP00000365402.5:p.Glu201Asp
ENST00000376228.9:c.603G>C ENSP00000365402.5:p.Glu201Asp
ENST00000376237.8:c.*190G>C ENSP00000365412.4:n.*190G>C
ENST00000383329.7:c.603G>C ENSP00000372819.3:p.Glu201Asp
ENST00000415537.1:c.601G>C
ENST00000487245.5:n.962G>C
ENST00000495835.1:n.792G>C
NM_002117.5:c.603G>C NP_002108.4:p.Glu201Asp
NM_002117.6:c.603G>C MANE Select NP_002108.4:p.Glu201Asp