Canonical Allele Identifier: CA3710388
Gene: HLA-C HGNC NCBI
COSMIC:
COSM4160706
COSM4160707
COSM4160708
dbSNP:
1050180
gnomAD v2:
6:31237833 T / A
gnomAD v3:
6:31270056 T / A
gnomAD v4:
chr6-31270056-T-A
Joint Max Group AF 0.00014332 (AFR)
Exomes Max Group AF 0.00022179 (AFR)
MyVariant.info:
GRCh38 chr6:g.31270056T>A
GRCh37 chr6:g.31237833T>A
Revel Score:
ENST00000376228 (MANE Select) 0.120
ENST00000383329 0.120
ENST00000396254 0.120
ENST00000539307 0.120
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.925A>T MANE Select ENSP00000365402.5:p.Met309Leu
ENST00000376228.9:c.925A>T ENSP00000365402.5:p.Met309Leu
ENST00000376237.8:c.*512A>T ENSP00000365412.4:n.*512A>T
ENST00000383329.7:c.925A>T ENSP00000372819.3:p.Met309Leu
ENST00000470363.5:n.243A>T
ENST00000487245.5:n.1284A>T
NM_002117.5:c.925A>T NP_002108.4:p.Met309Leu
NM_002117.6:c.925A>T MANE Select NP_002108.4:p.Met309Leu
Search 100 bp 5'
Search 100 bp 3'