Canonical Allele Identifier: CA363319692
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1348016183
gnomAD v2: 6-31237803-C-G
gnomAD v4: 6-31270026-C-G
MyVariant Identifiers: chr6:g.31237803C>G (hg19) chr6:g.31270026C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270026C>G , CM000668.2:g.31270026C>G GRCh38
NC_000006.11:g.31237803C>G , CM000668.1:g.31237803C>G GRCh37
NC_000006.10:g.31345782C>G NCBI36
NG_029422.2:g.7106G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.955G>C MANE Select ENSP00000365402.5:p.Val319Leu
ENST00000376228.9:c.955G>C ENSP00000365402.5:p.Val319Leu
ENST00000376237.8:c.*542G>C ENSP00000365412.4:n.*542G>C
ENST00000383329.7:c.955G>C ENSP00000372819.3:p.Val319Leu
ENST00000470363.5:n.273G>C
ENST00000487245.5:n.1314G>C
NM_002117.5:c.955G>C NP_002108.4:p.Val319Leu
NM_002117.6:c.955G>C MANE Select NP_002108.4:p.Val319Leu
Search 100 bp 5'
Search 100 bp 3'