Canonical Allele Identifier: CA823862556
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1488412899
gnomAD v3: 6-31270692-G-T
gnomAD v4: 6-31270692-G-T
MyVariant Identifiers: chr6:g.31238469G>T (hg19) chr6:g.31270692G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270692G>T , CM000668.2:g.31270692G>T GRCh38
NC_000006.11:g.31238469G>T , CM000668.1:g.31238469G>T GRCh37
NC_000006.10:g.31346448G>T NCBI36
NG_029422.2:g.6440C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.620-207C>A MANE Select ENSP00000365402.5:n.620-207C>A
ENST00000376228.9:c.620-207C>A ENSP00000365402.5:n.620-207C>A
ENST00000376237.8:c.*207-207C>A ENSP00000365412.4:n.*207-207C>A
ENST00000383329.7:c.620-207C>A ENSP00000372819.3:n.620-207C>A
ENST00000415537.1:c.618-207C>A
ENST00000487245.5:n.979-207C>A
ENST00000495835.1:n.809-207C>A
NM_002117.5:c.620-207C>A NP_002108.4:n.620-207C>A
NM_002117.6:c.620-207C>A MANE Select NP_002108.4:n.620-207C>A
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