Canonical Allele Identifier: CA3710354
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1050105
gnomAD v2: 6-31237769-G-A
gnomAD v3: 6-31269992-G-A
gnomAD v4: 6-31269992-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269992G>A , CM000668.2:g.31269992G>A GRCh38
NC_000006.11:g.31237769G>A , CM000668.1:g.31237769G>A GRCh37
NC_000006.10:g.31345748G>A NCBI36
NG_029422.2:g.7140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.989C>T MANE Select ENSP00000365402.5:p.Ala330Val
ENST00000376228.9:c.989C>T ENSP00000365402.5:p.Ala330Val
ENST00000376237.8:c.*576C>T ENSP00000365412.4:n.*576C>T
ENST00000383329.7:c.989C>T ENSP00000372819.3:p.Ala330Val
ENST00000470363.5:n.307C>T
ENST00000487245.5:n.1348C>T
NM_002117.5:c.989C>T NP_002108.4:p.Ala330Val
NM_002117.6:c.989C>T MANE Select NP_002108.4:p.Ala330Val