Canonical Allele Identifier: CA3710587
Gene: HLA-C HGNC NCBI
COSMIC:
COSM4160731 (not active)
COSM4160732 (not active)
COSM4160733 (not active)
MyVariant.info:
GRCh38 chr6:g.31270453G>C
GRCh37 chr6:g.31238230G>C
Revel Score:
ENST00000376228 (MANE Select) 0.091
ENST00000383329 0.091
ENST00000396254 0.091
ENST00000539307 0.091
ENST00000415537 0.027
gnomAD v2:
6:31238230 G / C
gnomAD v3:
6:31270453 G / C
gnomAD v4:
chr6-31270453-G-C
Joint Max Group AF 0.11165882 (AFR)
Genomes Max Group AF 0.04059919 (AFR)
Exomes Max Group AF 0.16830811 (AFR)
dbSNP:
1050716
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.652C>G MANE Select ENSP00000365402.5:p.Leu218Val
ENST00000376228.9:c.652C>G ENSP00000365402.5:p.Leu218Val
ENST00000376237.8:c.*239C>G ENSP00000365412.4:n.*239C>G
ENST00000383329.7:c.652C>G ENSP00000372819.3:p.Leu218Val
ENST00000415537.1:c.650C>G
ENST00000487245.5:n.1011C>G
ENST00000495835.1:n.841C>G
NM_002117.5:c.652C>G NP_002108.4:p.Leu218Val
NM_002117.6:c.652C>G MANE Select NP_002108.4:p.Leu218Val
Search 100 bp 5'
Search 100 bp 3'