Canonical Allele Identifier: CA363319879
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1237889046
gnomAD v2: 6-31237851-G-T
gnomAD v4: 6-31270074-G-T
MyVariant Identifiers: chr6:g.31237851G>T (hg19) chr6:g.31270074G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270074G>T , CM000668.2:g.31270074G>T GRCh38
NC_000006.11:g.31237851G>T , CM000668.1:g.31237851G>T GRCh37
NC_000006.10:g.31345830G>T NCBI36
NG_029422.2:g.7058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.907C>A MANE Select ENSP00000365402.5:p.Gln303Lys
ENST00000376228.9:c.907C>A ENSP00000365402.5:p.Gln303Lys
ENST00000376237.8:c.*494C>A ENSP00000365412.4:n.*494C>A
ENST00000383329.7:c.907C>A ENSP00000372819.3:p.Gln303Lys
ENST00000470363.5:n.225C>A
ENST00000487245.5:n.1266C>A
NM_002117.5:c.907C>A NP_002108.4:p.Gln303Lys
NM_002117.6:c.907C>A MANE Select NP_002108.4:p.Gln303Lys
Search 100 bp 5'
Search 100 bp 3'