Canonical Allele Identifier: CA3710214
Gene: HLA-C HGNC NCBI
dbSNP:
1049724
gnomAD v2:
6:31236862 C / T
gnomAD v3:
6:31269085 C / T
gnomAD v4:
chr6-31269085-C-T
Joint Max Group AF 0.08373587 (AFR)
Genomes Max Group AF 0.08484986 (AFR)
Exomes Max Group AF 0.07863943 (AFR)
MyVariant.info:
GRCh38 chr6:g.31269085C>T
GRCh37 chr6:g.31236862C>T
Revel Score:
ENST00000396254 0.079
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269085C>T , CM000668.2:g.31269085C>T GRCh38
NC_000006.11:g.31236862C>T , CM000668.1:g.31236862C>T GRCh37
NC_000006.10:g.31344841C>T NCBI36
NG_029422.2:g.8047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*84G>A MANE Select ENSP00000365402.5:n.*84G>A
ENST00000376228.9:c.*84G>A ENSP00000365402.5:n.*84G>A
ENST00000376237.8:c.*772G>A ENSP00000365412.4:n.*772G>A
ENST00000383329.7:c.*84G>A ENSP00000372819.3:n.*84G>A
ENST00000466892.5:n.418G>A
ENST00000470363.5:n.943G>A
ENST00000487245.5:n.1544G>A
NM_002117.5:c.*84G>A NP_002108.4:n.*84G>A
NM_002117.6:c.*84G>A MANE Select NP_002108.4:n.*84G>A
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