Canonical Allele Identifier: CA3710715
Gene: HLA-C HGNC NCBI
COSMIC:
COSM4160742 (not active)
COSM4160743 (not active)
COSM4160744 (not active)
MyVariant.info:
GRCh38 chr6:g.31271180A>C
GRCh37 chr6:g.31238957A>C
Revel Score:
ENST00000376228 (MANE Select) 0.344
ENST00000383329 0.344
ENST00000396254 0.344
ENST00000539307 0.344
gnomAD v2:
6:31238957 A / C
gnomAD v3:
6:31271180 A / C
gnomAD v4:
chr6-31271180-A-C
Joint Max Group AF 0.44535131 (EAS)
Genomes Max Group AF 0.10920845 (AFR)
Exomes Max Group AF 0.47086545 (EAS)
dbSNP:
1050366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271180A>C , CM000668.2:g.31271180A>C GRCh38
NC_000006.11:g.31238957A>C , CM000668.1:g.31238957A>C GRCh37
NC_000006.10:g.31346936A>C NCBI36
NG_029422.2:g.5952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.512T>G MANE Select ENSP00000365402.5:p.Leu171Trp
ENST00000376228.9:c.512T>G ENSP00000365402.5:p.Leu171Trp
ENST00000376237.8:c.*99T>G ENSP00000365412.4:n.*99T>G
ENST00000383329.7:c.512T>G ENSP00000372819.3:p.Leu171Trp
ENST00000415537.1:c.510T>G
ENST00000484378.1:n.781T>G
ENST00000487245.5:n.871T>G
ENST00000495835.1:n.701T>G
NM_002117.5:c.512T>G NP_002108.4:p.Leu171Trp
NM_002117.6:c.512T>G MANE Select NP_002108.4:p.Leu171Trp
Search 100 bp 5'
Search 100 bp 3'