Canonical Allele Identifier: CA3710591
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs530888210
gnomAD v2: 6-31238236-G-C
gnomAD v4: 6-31270459-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270459G>C , CM000668.2:g.31270459G>C GRCh38
NC_000006.11:g.31238236G>C , CM000668.1:g.31238236G>C GRCh37
NC_000006.10:g.31346215G>C NCBI36
NG_029422.2:g.6673C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.646C>G MANE Select ENSP00000365402.5:p.His216Asp
ENST00000376228.9:c.646C>G ENSP00000365402.5:p.His216Asp
ENST00000376237.8:c.*233C>G ENSP00000365412.4:n.*233C>G
ENST00000383329.7:c.646C>G ENSP00000372819.3:p.His216Asp
ENST00000415537.1:c.644C>G
ENST00000487245.5:n.1005C>G
ENST00000495835.1:n.835C>G
NM_002117.5:c.646C>G NP_002108.4:p.His216Asp
NM_002117.6:c.646C>G MANE Select NP_002108.4:p.His216Asp