Canonical Allele Identifier: CA3710387
Gene: HLA-C HGNC NCBI
COSMIC:
COSM3734020
COSM3734021
COSM3734022
dbSNP:
1050180
gnomAD v2:
6:31237833 T / C
gnomAD v3:
6:31270056 T / C
gnomAD v4:
chr6-31270056-T-C
Joint Max Group AF 0.00138977 (SAS)
Genomes Max Group AF 0.00005922 (NFE)
Exomes Max Group AF 0.00249578 (AFR)
MyVariant.info:
GRCh38 chr6:g.31270056T>C
GRCh37 chr6:g.31237833T>C
Revel Score:
ENST00000376228 (MANE Select) 0.022
ENST00000383329 0.022
ENST00000396254 0.022
ENST00000539307 0.022
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270056T>C , CM000668.2:g.31270056T>C GRCh38
NC_000006.11:g.31237833T>C , CM000668.1:g.31237833T>C GRCh37
NC_000006.10:g.31345812T>C NCBI36
NG_029422.2:g.7076A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.925A>G MANE Select ENSP00000365402.5:p.Met309Val
ENST00000376228.9:c.925A>G ENSP00000365402.5:p.Met309Val
ENST00000376237.8:c.*512A>G ENSP00000365412.4:n.*512A>G
ENST00000383329.7:c.925A>G ENSP00000372819.3:p.Met309Val
ENST00000470363.5:n.243A>G
ENST00000487245.5:n.1284A>G
NM_002117.5:c.925A>G NP_002108.4:p.Met309Val
NM_002117.6:c.925A>G MANE Select NP_002108.4:p.Met309Val
Search 100 bp 5'
Search 100 bp 3'