Canonical Allele Identifier: CA3710681
Gene: HLA-C HGNC NCBI
COSMIC:
COSM3252917 (not active)
COSM3252918 (not active)
COSM3252919 (not active)
MyVariant.info:
GRCh38 chr6:g.31271132G>T
GRCh37 chr6:g.31238909G>T
Revel Score:
ENST00000415537 0.048
ENST00000376228 (MANE Select) 0.312
ENST00000383329 0.312
ENST00000396254 0.312
ENST00000539307 0.312
gnomAD v2:
6:31238909 G / T
gnomAD v3:
6:31271132 G / T
gnomAD v4:
chr6-31271132-G-T
Joint Max Group AF 0.0221764 (AFR)
Genomes Max Group AF 0.00092425 (AFR)
Exomes Max Group AF 0.03463225 (AFR)
dbSNP:
1050686
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271132G>T , CM000668.2:g.31271132G>T GRCh38
NC_000006.11:g.31238909G>T , CM000668.1:g.31238909G>T GRCh37
NC_000006.10:g.31346888G>T NCBI36
NG_029422.2:g.6000C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.560C>A MANE Select ENSP00000365402.5:p.Thr187Lys
ENST00000376228.9:c.560C>A ENSP00000365402.5:p.Thr187Lys
ENST00000376237.8:c.*147C>A ENSP00000365412.4:n.*147C>A
ENST00000383329.7:c.560C>A ENSP00000372819.3:p.Thr187Lys
ENST00000415537.1:c.558C>A
ENST00000484378.1:n.829C>A
ENST00000487245.5:n.919C>A
ENST00000495835.1:n.749C>A
NM_002117.5:c.560C>A NP_002108.4:p.Thr187Lys
NM_002117.6:c.560C>A MANE Select NP_002108.4:p.Thr187Lys
Search 100 bp 5'
Search 100 bp 3'