Canonical Allele Identifier: CA136865883
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860553
gnomAD v3: 6-31270443-T-C
gnomAD v4: 6-31270443-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270443T>C , CM000668.2:g.31270443T>C GRCh38
NC_000006.11:g.31238220T>C , CM000668.1:g.31238220T>C GRCh37
NC_000006.10:g.31346199T>C NCBI36
NG_029422.2:g.6689A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.662A>G MANE Select ENSP00000365402.5:p.His221Arg
ENST00000376228.9:c.662A>G ENSP00000365402.5:p.His221Arg
ENST00000376237.8:c.*249A>G ENSP00000365412.4:n.*249A>G
ENST00000383329.7:c.662A>G ENSP00000372819.3:p.His221Arg
ENST00000415537.1:c.660A>G
ENST00000487245.5:n.1021A>G
ENST00000495835.1:n.851A>G
NM_002117.5:c.662A>G NP_002108.4:p.His221Arg
NM_002117.6:c.662A>G MANE Select NP_002108.4:p.His221Arg