Canonical Allele Identifier: CA3710595
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs148650077
gnomAD v2: 6-31238253-T-C
gnomAD v3: 6-31270476-T-C
gnomAD v4: 6-31270476-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270476T>C , CM000668.2:g.31270476T>C GRCh38
NC_000006.11:g.31238253T>C , CM000668.1:g.31238253T>C GRCh37
NC_000006.10:g.31346232T>C NCBI36
NG_029422.2:g.6656A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.629A>G MANE Select ENSP00000365402.5:p.Lys210Arg
ENST00000376228.9:c.629A>G ENSP00000365402.5:p.Lys210Arg
ENST00000376237.8:c.*216A>G ENSP00000365412.4:n.*216A>G
ENST00000383329.7:c.629A>G ENSP00000372819.3:p.Lys210Arg
ENST00000415537.1:c.627A>G
ENST00000487245.5:n.988A>G
ENST00000495835.1:n.818A>G
NM_002117.5:c.629A>G NP_002108.4:p.Lys210Arg
NM_002117.6:c.629A>G MANE Select NP_002108.4:p.Lys210Arg