Canonical Allele Identifier: CA136860981
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1130558
gnomAD v2: 6-31236647-C-T
gnomAD v3: 6-31268870-C-T
gnomAD v4: 6-31268870-C-T
MyVariant Identifiers: chr6:g.31236647C>T (hg19) chr6:g.31268870C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268870C>T , CM000668.2:g.31268870C>T GRCh38
NC_000006.11:g.31236647C>T , CM000668.1:g.31236647C>T GRCh37
NC_000006.10:g.31344626C>T NCBI36
NG_029422.2:g.8262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*299G>A MANE Select ENSP00000365402.5:n.*299G>A
ENST00000376228.9:c.*299G>A ENSP00000365402.5:n.*299G>A
ENST00000376237.8:c.*987G>A ENSP00000365412.4:n.*987G>A
ENST00000383329.7:c.*299G>A ENSP00000372819.3:n.*299G>A
ENST00000466892.5:n.633G>A
ENST00000470363.5:n.1158G>A
ENST00000487245.5:n.1759G>A
NM_002117.5:c.*299G>A NP_002108.4:n.*299G>A
NM_002117.6:c.*299G>A MANE Select NP_002108.4:n.*299G>A
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