Canonical Allele Identifier: CA566336282
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1562020363
gnomAD v2: 6-31236934-C-T
gnomAD v3: 6-31269157-C-T
gnomAD v4: 6-31269157-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269157C>T , CM000668.2:g.31269157C>T GRCh38
NC_000006.11:g.31236934C>T , CM000668.1:g.31236934C>T GRCh37
NC_000006.10:g.31344913C>T NCBI36
NG_029422.2:g.7975G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*12G>A MANE Select ENSP00000365402.5:n.*12G>A
ENST00000376228.9:c.*12G>A ENSP00000365402.5:n.*12G>A
ENST00000376237.8:c.*700G>A ENSP00000365412.4:n.*700G>A
ENST00000383329.7:c.*12G>A ENSP00000372819.3:n.*12G>A
ENST00000466892.5:n.346G>A
ENST00000470363.5:n.871G>A
ENST00000487245.5:n.1472G>A
NM_002117.5:c.*12G>A NP_002108.4:n.*12G>A
NM_002117.6:c.*12G>A MANE Select NP_002108.4:n.*12G>A