Canonical Allele Identifier: CA136861088
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs529358989
gnomAD v2: 6-31236724-C-G
gnomAD v3: 6-31268947-C-G
gnomAD v4: 6-31268947-C-G
MyVariant Identifiers: chr6:g.31236724C>G (hg19) chr6:g.31268947C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268947C>G , CM000668.2:g.31268947C>G GRCh38
NC_000006.11:g.31236724C>G , CM000668.1:g.31236724C>G GRCh37
NC_000006.10:g.31344703C>G NCBI36
NG_029422.2:g.8185G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*222G>C MANE Select ENSP00000365402.5:n.*222G>C
ENST00000376228.9:c.*222G>C ENSP00000365402.5:n.*222G>C
ENST00000376237.8:c.*910G>C ENSP00000365412.4:n.*910G>C
ENST00000383329.7:c.*222G>C ENSP00000372819.3:n.*222G>C
ENST00000466892.5:n.556G>C
ENST00000470363.5:n.1081G>C
ENST00000487245.5:n.1682G>C
NM_002117.5:c.*222G>C NP_002108.4:n.*222G>C
NM_002117.6:c.*222G>C MANE Select NP_002108.4:n.*222G>C
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