Canonical Allele Identifier: CA3710581
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41559418
gnomAD v2: 6-31238204-C-T
gnomAD v3: 6-31270427-C-T
gnomAD v4: 6-31270427-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270427C>T , CM000668.2:g.31270427C>T GRCh38
NC_000006.11:g.31238204C>T , CM000668.1:g.31238204C>T GRCh37
NC_000006.10:g.31346183C>T NCBI36
NG_029422.2:g.6705G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.678G>A MANE Select ENSP00000365402.5:p.Arg226=
ENST00000376228.9:c.678G>A ENSP00000365402.5:p.Arg226=
ENST00000376237.8:c.*265G>A ENSP00000365412.4:n.*265G>A
ENST00000383329.7:c.678G>A ENSP00000372819.3:p.Arg226=
ENST00000415537.1:c.664+12G>A
ENST00000487245.5:n.1037G>A
ENST00000495835.1:n.867G>A
NM_002117.5:c.678G>A NP_002108.4:p.Arg226=
NM_002117.6:c.678G>A MANE Select NP_002108.4:p.Arg226=