Canonical Allele Identifier: CA363326001
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1357388290
gnomAD v2: 6-31238999-C-G
gnomAD v3: 6-31271222-C-G
gnomAD v4: 6-31271222-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271222C>G , CM000668.2:g.31271222C>G GRCh38
NC_000006.11:g.31238999C>G , CM000668.1:g.31238999C>G GRCh37
NC_000006.10:g.31346978C>G NCBI36
NG_029422.2:g.5910G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.470G>C MANE Select ENSP00000365402.5:p.Trp157Ser
ENST00000376228.9:c.470G>C ENSP00000365402.5:p.Trp157Ser
ENST00000376237.8:c.*57G>C ENSP00000365412.4:n.*57G>C
ENST00000383329.7:c.470G>C ENSP00000372819.3:p.Trp157Ser
ENST00000415537.1:c.468G>C
ENST00000484378.1:n.739G>C
ENST00000487245.5:n.829G>C
ENST00000495835.1:n.659G>C
NM_002117.5:c.470G>C NP_002108.4:p.Trp157Ser
NM_002117.6:c.470G>C MANE Select NP_002108.4:p.Trp157Ser