Canonical Allele Identifier: CA3710351
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41542414
gnomAD v2: 6-31237766-A-T
gnomAD v3: 6-31269989-A-T
gnomAD v4: 6-31269989-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269989A>T , CM000668.2:g.31269989A>T GRCh38
NC_000006.11:g.31237766A>T , CM000668.1:g.31237766A>T GRCh37
NC_000006.10:g.31345745A>T NCBI36
NG_029422.2:g.7143T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.992T>A MANE Select ENSP00000365402.5:p.Met331Lys
ENST00000376228.9:c.992T>A ENSP00000365402.5:p.Met331Lys
ENST00000376237.8:c.*579T>A ENSP00000365412.4:n.*579T>A
ENST00000383329.7:c.992T>A ENSP00000372819.3:p.Met331Lys
ENST00000470363.5:n.310T>A
ENST00000487245.5:n.1351T>A
NM_002117.5:c.992T>A NP_002108.4:p.Met331Lys
NM_002117.6:c.992T>A MANE Select NP_002108.4:p.Met331Lys