Canonical Allele Identifier: CA136866397
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1131104
gnomAD v2: 6-31238875-G-C
gnomAD v3: 6-31271098-G-C
gnomAD v4: 6-31271098-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271098G>C , CM000668.2:g.31271098G>C GRCh38
NC_000006.11:g.31238875G>C , CM000668.1:g.31238875G>C GRCh37
NC_000006.10:g.31346854G>C NCBI36
NG_029422.2:g.6034C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.594C>G MANE Select ENSP00000365402.5:p.Asn198Lys
ENST00000376228.9:c.594C>G ENSP00000365402.5:p.Asn198Lys
ENST00000376237.8:c.*181C>G ENSP00000365412.4:n.*181C>G
ENST00000383329.7:c.594C>G ENSP00000372819.3:p.Asn198Lys
ENST00000415537.1:c.592C>G
ENST00000487245.5:n.953C>G
ENST00000495835.1:n.783C>G
NM_002117.5:c.594C>G NP_002108.4:p.Asn198Lys
NM_002117.6:c.594C>G MANE Select NP_002108.4:p.Asn198Lys