Canonical Allele Identifier: CA363319430
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269502-G-C
MyVariant Identifiers: chr6:g.31237279G>C (hg19) chr6:g.31269502G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269502G>C , CM000668.2:g.31269502G>C GRCh38
NC_000006.11:g.31237279G>C , CM000668.1:g.31237279G>C GRCh37
NC_000006.10:g.31345258G>C NCBI36
NG_029422.2:g.7630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1039C>G MANE Select ENSP00000365402.5:p.Gln347Glu
ENST00000376228.9:c.1039C>G ENSP00000365402.5:p.Gln347Glu
ENST00000376237.8:c.*626C>G ENSP00000365412.4:n.*626C>G
ENST00000383329.7:c.1057C>G ENSP00000372819.3:p.Gln353Glu
ENST00000466892.5:n.165C>G
ENST00000470363.5:n.797C>G
ENST00000487245.5:n.1398C>G
NM_002117.5:c.1039C>G NP_002108.4:p.Gln347Glu
NM_002117.6:c.1039C>G MANE Select NP_002108.4:p.Gln347Glu
Search 100 bp 5'
Search 100 bp 3'