Canonical Allele Identifier: CA3710588
Gene: HLA-C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31270453G>T
GRCh37 chr6:g.31238230G>T
Revel Score:
ENST00000376228 (MANE Select) 0.072
ENST00000383329 0.072
ENST00000396254 0.072
ENST00000539307 0.072
ENST00000415537 0.021
gnomAD v2:
6:31238230 G / T
gnomAD v3:
6:31270453 G / T
gnomAD v4:
chr6-31270453-G-T
Joint Max Group AF 0.02167899 (EAS)
Exomes Max Group AF 0.02574566 (AMR)
dbSNP:
1050716
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270453G>T , CM000668.2:g.31270453G>T GRCh38
NC_000006.11:g.31238230G>T , CM000668.1:g.31238230G>T GRCh37
NC_000006.10:g.31346209G>T NCBI36
NG_029422.2:g.6679C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.652C>A MANE Select ENSP00000365402.5:p.Leu218Ile
ENST00000376228.9:c.652C>A ENSP00000365402.5:p.Leu218Ile
ENST00000376237.8:c.*239C>A ENSP00000365412.4:n.*239C>A
ENST00000383329.7:c.652C>A ENSP00000372819.3:p.Leu218Ile
ENST00000415537.1:c.650C>A
ENST00000487245.5:n.1011C>A
ENST00000495835.1:n.841C>A
NM_002117.5:c.652C>A NP_002108.4:p.Leu218Ile
NM_002117.6:c.652C>A MANE Select NP_002108.4:p.Leu218Ile
Search 100 bp 5'
Search 100 bp 3'