Canonical Allele Identifier: CA363320488
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270255-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270255G>T , CM000668.2:g.31270255G>T GRCh38
NC_000006.11:g.31238032G>T , CM000668.1:g.31238032G>T GRCh37
NC_000006.10:g.31346011G>T NCBI36
NG_029422.2:g.6877C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.850C>A MANE Select ENSP00000365402.5:p.His284Asn
ENST00000376228.9:c.850C>A ENSP00000365402.5:p.His284Asn
ENST00000376237.8:c.*437C>A ENSP00000365412.4:n.*437C>A
ENST00000383329.7:c.850C>A ENSP00000372819.3:p.His284Asn
ENST00000415537.1:c.741C>A
ENST00000470363.5:n.168C>A
ENST00000487245.5:n.1209C>A
ENST00000495835.1:n.1039C>A
NM_002117.5:c.850C>A NP_002108.4:p.His284Asn
NM_002117.6:c.850C>A MANE Select NP_002108.4:p.His284Asn