Canonical Allele Identifier: CA136861063
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs540241542
gnomAD v2: 6-31236698-A-G
gnomAD v3: 6-31268921-A-G
gnomAD v4: 6-31268921-A-G
MyVariant Identifiers: chr6:g.31236698A>G (hg19) chr6:g.31268921A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268921A>G , CM000668.2:g.31268921A>G GRCh38
NC_000006.11:g.31236698A>G , CM000668.1:g.31236698A>G GRCh37
NC_000006.10:g.31344677A>G NCBI36
NG_029422.2:g.8211T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*248T>C MANE Select ENSP00000365402.5:n.*248T>C
ENST00000376228.9:c.*248T>C ENSP00000365402.5:n.*248T>C
ENST00000376237.8:c.*936T>C ENSP00000365412.4:n.*936T>C
ENST00000383329.7:c.*248T>C ENSP00000372819.3:n.*248T>C
ENST00000466892.5:n.582T>C
ENST00000470363.5:n.1107T>C
ENST00000487245.5:n.1708T>C
NM_002117.5:c.*248T>C NP_002108.4:n.*248T>C
NM_002117.6:c.*248T>C MANE Select NP_002108.4:n.*248T>C
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