Canonical Allele Identifier: CA3710371
Gene: HLA-C HGNC NCBI
COSMIC:
COSM3734017
COSM3734018
COSM3734019
dbSNP:
1050147
gnomAD v2:
6:31237802 A / G
gnomAD v3:
6:31270025 A / G
gnomAD v4:
chr6-31270025-A-G
Joint Max Group AF 0.00164964 (SAS)
Genomes Max Group AF 0.00005934 (NFE)
Exomes Max Group AF 0.0017204 (SAS)
MyVariant.info:
GRCh38 chr6:g.31270025A>G
GRCh37 chr6:g.31237802A>G
Revel Score:
ENST00000376228 (MANE Select) 0.007
ENST00000383329 0.007
ENST00000396254 0.007
ENST00000539307 0.007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270025A>G , CM000668.2:g.31270025A>G GRCh38
NC_000006.11:g.31237802A>G , CM000668.1:g.31237802A>G GRCh37
NC_000006.10:g.31345781A>G NCBI36
NG_029422.2:g.7107T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.956T>C MANE Select ENSP00000365402.5:p.Val319Ala
ENST00000376228.9:c.956T>C ENSP00000365402.5:p.Val319Ala
ENST00000376237.8:c.*543T>C ENSP00000365412.4:n.*543T>C
ENST00000383329.7:c.956T>C ENSP00000372819.3:p.Val319Ala
ENST00000470363.5:n.274T>C
ENST00000487245.5:n.1315T>C
NM_002117.5:c.956T>C NP_002108.4:p.Val319Ala
NM_002117.6:c.956T>C MANE Select NP_002108.4:p.Val319Ala
Search 100 bp 5'
Search 100 bp 3'