Canonical Allele Identifier: CA136861589
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs111260491
gnomAD v3: 6-31269275-C-T
gnomAD v4: 6-31269275-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269275C>T , CM000668.2:g.31269275C>T GRCh38
NC_000006.11:g.31237052C>T , CM000668.1:g.31237052C>T GRCh37
NC_000006.10:g.31345031C>T NCBI36
NG_029422.2:g.7857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1096+63G>A MANE Select ENSP00000365402.5:n.1096+63G>A
ENST00000376228.9:c.1096+63G>A ENSP00000365402.5:n.1096+63G>A
ENST00000376237.8:c.*683+63G>A ENSP00000365412.4:n.*683+63G>A
ENST00000383329.7:c.1114+63G>A ENSP00000372819.3:n.1114+63G>A
ENST00000466892.5:n.329+63G>A
ENST00000470363.5:n.854+63G>A
ENST00000487245.5:n.1455+63G>A
NM_002117.5:c.1096+63G>A NP_002108.4:n.1096+63G>A
NM_002117.6:c.1096+63G>A MANE Select NP_002108.4:n.1096+63G>A