Canonical Allele Identifier: CA3710257
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs758988637
ExAC: 6:31237115 C / T
gnomAD v2: 6-31237115-C-T
gnomAD v3: 6-31269338-C-T
gnomAD v4: 6-31269338-C-T
MyVariant Identifiers: chr6:g.31237115C>T (hg19) chr6:g.31237115_31237116delinsTT (hg19) chr6:g.31269338C>T (hg38) chr6:g.31269338_31269339delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269338C>T , CM000668.2:g.31269338C>T GRCh38
NC_000006.11:g.31237115C>T , CM000668.1:g.31237115C>T GRCh37
NC_000006.10:g.31345094C>T NCBI36
NG_029422.2:g.7794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1096G>A MANE Select ENSP00000365402.5:p.Ala366Thr
ENST00000376228.9:c.1096G>A ENSP00000365402.5:p.Ala366Thr
ENST00000376237.8:c.*683G>A ENSP00000365412.4:n.*683G>A
ENST00000383329.7:c.1114G>A ENSP00000372819.3:p.Ala372Thr
ENST00000466892.5:n.329G>A
ENST00000470363.5:n.854G>A
ENST00000487245.5:n.1455G>A
NM_002117.5:c.1096G>A NP_002108.4:p.Ala366Thr
NM_002117.6:c.1096G>A MANE Select NP_002108.4:p.Ala366Thr
Search 100 bp 5'
Search 100 bp 3'