Canonical Allele Identifier: CA363319679
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs766349491
gnomAD v2: 6-31237800-C-T
gnomAD v4: 6-31270023-C-T
MyVariant Identifiers: chr6:g.31237800C>T (hg19) chr6:g.31270023C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270023C>T , CM000668.2:g.31270023C>T GRCh38
NC_000006.11:g.31237800C>T , CM000668.1:g.31237800C>T GRCh37
NC_000006.10:g.31345779C>T NCBI36
NG_029422.2:g.7109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.958G>A MANE Select ENSP00000365402.5:p.Val320Ile
ENST00000376228.9:c.958G>A ENSP00000365402.5:p.Val320Ile
ENST00000376237.8:c.*545G>A ENSP00000365412.4:n.*545G>A
ENST00000383329.7:c.958G>A ENSP00000372819.3:p.Val320Ile
ENST00000470363.5:n.276G>A
ENST00000487245.5:n.1317G>A
NM_002117.5:c.958G>A NP_002108.4:p.Val320Ile
NM_002117.6:c.958G>A MANE Select NP_002108.4:p.Val320Ile
Search 100 bp 5'
Search 100 bp 3'