Canonical Allele Identifier: CA136862300
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs45437892
gnomAD v3: 6-31269765-T-C
gnomAD v4: 6-31269765-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269765T>C , CM000668.2:g.31269765T>C GRCh38
NC_000006.11:g.31237542T>C , CM000668.1:g.31237542T>C GRCh37
NC_000006.10:g.31345521T>C NCBI36
NG_029422.2:g.7367A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1015+201A>G MANE Select ENSP00000365402.5:n.1015+201A>G
ENST00000376228.9:c.1015+201A>G ENSP00000365402.5:n.1015+201A>G
ENST00000376237.8:c.*602+201A>G ENSP00000365412.4:n.*602+201A>G
ENST00000383329.7:c.1015+201A>G ENSP00000372819.3:n.1015+201A>G
ENST00000470363.5:n.534A>G
ENST00000487245.5:n.1374+201A>G
NM_002117.5:c.1015+201A>G NP_002108.4:n.1015+201A>G
NM_002117.6:c.1015+201A>G MANE Select NP_002108.4:n.1015+201A>G