Canonical Allele Identifier: CA136868403
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs985191392
gnomAD v3: 6-31271511-T-C
gnomAD v4: 6-31271511-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271511T>C , CM000668.2:g.31271511T>C GRCh38
NC_000006.11:g.31239288T>C , CM000668.1:g.31239288T>C GRCh37
NC_000006.10:g.31347267T>C NCBI36
NG_029422.2:g.5621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.343+88A>G MANE Select ENSP00000365402.5:n.343+88A>G
ENST00000376228.9:c.343+88A>G ENSP00000365402.5:n.343+88A>G
ENST00000376237.8:c.343+88A>G ENSP00000365412.4:n.343+88A>G
ENST00000383329.7:c.343+88A>G ENSP00000372819.3:n.343+88A>G
ENST00000415537.1:c.341+88A>G
ENST00000484378.1:n.450A>G
ENST00000487245.5:n.540A>G
ENST00000495835.1:n.532+88A>G
NM_002117.5:c.343+88A>G NP_002108.4:n.343+88A>G
NM_002117.6:c.343+88A>G MANE Select NP_002108.4:n.343+88A>G