Canonical Allele Identifier: CA363326995
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1761326383
gnomAD v3: 6-31271312-A-T
gnomAD v4: 6-31271312-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271312A>T , CM000668.2:g.31271312A>T GRCh38
NC_000006.11:g.31239089A>T , CM000668.1:g.31239089A>T GRCh37
NC_000006.10:g.31347068A>T NCBI36
NG_029422.2:g.5820T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.380T>A MANE Select ENSP00000365402.5:p.Leu127Gln
ENST00000376228.9:c.380T>A ENSP00000365402.5:p.Leu127Gln
ENST00000376237.8:c.363T>A ENSP00000365412.4:p.Pro121=
ENST00000383329.7:c.380T>A ENSP00000372819.3:p.Leu127Gln
ENST00000415537.1:c.378T>A
ENST00000484378.1:n.649T>A
ENST00000487245.5:n.739T>A
ENST00000495835.1:n.569T>A
NM_002117.5:c.380T>A NP_002108.4:p.Leu127Gln
NM_002117.6:c.380T>A MANE Select NP_002108.4:p.Leu127Gln