Canonical Allele Identifier: CA3710773
Gene: HLA-C HGNC NCBI
COSMIC:
COSM4006317 (not active)
COSM4006318 (not active)
COSM4006319 (not active)
MyVariant.info:
GRCh38 chr6:g.31271305G>C
GRCh37 chr6:g.31239082G>C
Revel Score:
ENST00000415537 0.028
gnomAD v2:
6:31239082 G / C
gnomAD v3:
6:31271305 G / C
gnomAD v4:
chr6-31271305-G-C
Joint Max Group AF 0.02680055 (SAS)
Genomes Max Group AF 0.00375654 (EAS)
Exomes Max Group AF 0.0274527 (SAS)
dbSNP:
1050384
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271305G>C , CM000668.2:g.31271305G>C GRCh38
NC_000006.11:g.31239082G>C , CM000668.1:g.31239082G>C GRCh37
NC_000006.10:g.31347061G>C NCBI36
NG_029422.2:g.5827C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.387C>G MANE Select ENSP00000365402.5:p.Pro129=
ENST00000376228.9:c.387C>G ENSP00000365402.5:p.Pro129=
ENST00000376237.8:c.370C>G ENSP00000365412.4:p.Arg124Gly
ENST00000383329.7:c.387C>G ENSP00000372819.3:p.Pro129=
ENST00000415537.1:c.385C>G
ENST00000484378.1:n.656C>G
ENST00000487245.5:n.746C>G
ENST00000495835.1:n.576C>G
NM_002117.5:c.387C>G NP_002108.4:p.Pro129=
NM_002117.6:c.387C>G MANE Select NP_002108.4:p.Pro129=
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