Canonical Allele Identifier: CA363319886
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1247917344
gnomAD v3: 6-31270077-A-C
gnomAD v4: 6-31270077-A-C
MyVariant Identifiers: chr6:g.31237854A>C (hg19) chr6:g.31270077A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270077A>C , CM000668.2:g.31270077A>C GRCh38
NC_000006.11:g.31237854A>C , CM000668.1:g.31237854A>C GRCh37
NC_000006.10:g.31345833A>C NCBI36
NG_029422.2:g.7055T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.904T>G MANE Select ENSP00000365402.5:p.Ser302Ala
ENST00000376228.9:c.904T>G ENSP00000365402.5:p.Ser302Ala
ENST00000376237.8:c.*491T>G ENSP00000365412.4:n.*491T>G
ENST00000383329.7:c.904T>G ENSP00000372819.3:p.Ser302Ala
ENST00000470363.5:n.222T>G
ENST00000487245.5:n.1263T>G
NM_002117.5:c.904T>G NP_002108.4:p.Ser302Ala
NM_002117.6:c.904T>G MANE Select NP_002108.4:p.Ser302Ala
Search 100 bp 5'
Search 100 bp 3'