Canonical Allele Identifier: CA3710662
Gene: HLA-C HGNC NCBI
COSMIC:
COSM5480015 (not active)
COSM5480016 (not active)
COSM5480017 (not active)
MyVariant.info:
GRCh38 chr6:g.31271098G>A
GRCh37 chr6:g.31238875G>A
Revel Score:
ENST00000415537 0.034
gnomAD v2:
6:31238875 G / A
gnomAD v3:
6:31271098 G / A
gnomAD v4:
chr6-31271098-G-A
Joint Max Group AF 0.00190295 (EAS)
Genomes Max Group AF 0.00023412 (NFE)
Exomes Max Group AF 0.00207419 (EAS)
dbSNP:
1131104
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271098G>A , CM000668.2:g.31271098G>A GRCh38
NC_000006.11:g.31238875G>A , CM000668.1:g.31238875G>A GRCh37
NC_000006.10:g.31346854G>A NCBI36
NG_029422.2:g.6034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.594C>T MANE Select ENSP00000365402.5:p.Asn198=
ENST00000376228.9:c.594C>T ENSP00000365402.5:p.Asn198=
ENST00000376237.8:c.*181C>T ENSP00000365412.4:n.*181C>T
ENST00000383329.7:c.594C>T ENSP00000372819.3:p.Asn198=
ENST00000415537.1:c.592C>T
ENST00000487245.5:n.953C>T
ENST00000495835.1:n.783C>T
NM_002117.5:c.594C>T NP_002108.4:p.Asn198=
NM_002117.6:c.594C>T MANE Select NP_002108.4:p.Asn198=
Search 100 bp 5'
Search 100 bp 3'