Canonical Allele Identifier: CA3710783
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1131115
ExAC: 6:31239101 G / C
gnomAD v2: 6-31239101-G-C
gnomAD v3: 6-31271324-G-C
gnomAD v4: 6-31271324-G-C
COSMIC: COSM4592469 COSM4592470 COSM4592471
MyVariant Identifiers: chr6:g.31239101G>C (hg19) chr6:g.31271324G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271324G>C , CM000668.2:g.31271324G>C GRCh38
NC_000006.11:g.31239101G>C , CM000668.1:g.31239101G>C GRCh37
NC_000006.10:g.31347080G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.368C>G MANE Select ENSP00000365402.5:p.Ser123Cys
ENST00000376228.9:c.368C>G ENSP00000365402.5:p.Ser123Cys
ENST00000376237.8:c.351C>G ENSP00000365412.4:p.Val117=
ENST00000383329.7:c.368C>G ENSP00000372819.3:p.Ser123Cys
ENST00000415537.1:c.366C>G
ENST00000484378.1:n.637C>G
ENST00000487245.5:n.727C>G
ENST00000495835.1:n.557C>G
NM_002117.5:c.368C>G NP_002108.4:p.Ser123Cys
NM_002117.6:c.368C>G MANE Select NP_002108.4:p.Ser123Cys
Search 100 bp 5'
Search 100 bp 3'