Canonical Allele Identifier: CA136867379
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs72558147
gnomAD v3: 6-31271265-C-T
gnomAD v4: 6-31271265-C-T
COSMIC: COSM1443246 COSM1443247 COSM4786441
MyVariant Identifiers: chr6:g.31239042C>T (hg19) chr6:g.31271265C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271265C>T , CM000668.2:g.31271265C>T GRCh38
NC_000006.11:g.31239042C>T , CM000668.1:g.31239042C>T GRCh37
NC_000006.10:g.31347021C>T NCBI36
NG_029422.2:g.5867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.427G>A MANE Select ENSP00000365402.5:p.Asp143Asn
ENST00000376228.9:c.427G>A ENSP00000365402.5:p.Asp143Asn
ENST00000376237.8:c.*14G>A ENSP00000365412.4:n.*14G>A
ENST00000383329.7:c.427G>A ENSP00000372819.3:p.Asp143Asn
ENST00000415537.1:c.425G>A
ENST00000484378.1:n.696G>A
ENST00000487245.5:n.786G>A
ENST00000495835.1:n.616G>A
NM_002117.5:c.427G>A NP_002108.4:p.Asp143Asn
NM_002117.6:c.427G>A MANE Select NP_002108.4:p.Asp143Asn
Search 100 bp 5'
Search 100 bp 3'