Canonical Allele Identifier: CA3710684
Gene: HLA-C HGNC NCBI
COSMIC:
COSM4594537 (not active)
COSM4594538 (not active)
COSM4594539 (not active)
MyVariant.info:
GRCh38 chr6:g.31271133T>C
GRCh38 chr6:g.31271133_31271135delinsCGC
GRCh37 chr6:g.31238910T>C
GRCh37 chr6:g.31238910_31238912delinsCGC
Revel Score:
ENST00000415537 0.038
ENST00000376228 (MANE Select) 0.243
ENST00000383329 0.243
ENST00000396254 0.243
ENST00000539307 0.243
gnomAD v2:
6:31238910 T / C
gnomAD v3:
6:31271133 T / C
gnomAD v4:
chr6-31271133-T-C
Joint Max Group AF 0.02176925 (AFR)
Genomes Max Group AF 0.00085673 (AFR)
Exomes Max Group AF 0.0341039 (AFR)
dbSNP:
1050685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271133T>C , CM000668.2:g.31271133T>C GRCh38
NC_000006.11:g.31238910T>C , CM000668.1:g.31238910T>C GRCh37
NC_000006.10:g.31346889T>C NCBI36
NG_029422.2:g.5999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.559A>G MANE Select ENSP00000365402.5:p.Thr187Ala
ENST00000376228.9:c.559A>G ENSP00000365402.5:p.Thr187Ala
ENST00000376237.8:c.*146A>G ENSP00000365412.4:n.*146A>G
ENST00000383329.7:c.559A>G ENSP00000372819.3:p.Thr187Ala
ENST00000415537.1:c.557A>G
ENST00000484378.1:n.828A>G
ENST00000487245.5:n.918A>G
ENST00000495835.1:n.748A>G
NM_002117.5:c.559A>G NP_002108.4:p.Thr187Ala
NM_002117.6:c.559A>G MANE Select NP_002108.4:p.Thr187Ala
Search 100 bp 5'
Search 100 bp 3'