Canonical Allele Identifier: CA363319573
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs181100963
gnomAD v2: 6-31237759-A-C
gnomAD v3: 6-31269982-A-C
gnomAD v4: 6-31269982-A-C
MyVariant Identifiers: chr6:g.31237759A>C (hg19) chr6:g.31269982A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269982A>C , CM000668.2:g.31269982A>C GRCh38
NC_000006.11:g.31237759A>C , CM000668.1:g.31237759A>C GRCh37
NC_000006.10:g.31345738A>C NCBI36
NG_029422.2:g.7150T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.999T>G MANE Select ENSP00000365402.5:p.Cys333Trp
ENST00000376228.9:c.999T>G ENSP00000365402.5:p.Cys333Trp
ENST00000376237.8:c.*586T>G ENSP00000365412.4:n.*586T>G
ENST00000383329.7:c.999T>G ENSP00000372819.3:p.Cys333Trp
ENST00000470363.5:n.317T>G
ENST00000487245.5:n.1358T>G
NM_002117.5:c.999T>G NP_002108.4:p.Cys333Trp
NM_002117.6:c.999T>G MANE Select NP_002108.4:p.Cys333Trp
Search 100 bp 5'
Search 100 bp 3'