Canonical Allele Identifier: CA363319500
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1761131509
gnomAD v3: 6-31269532-G-T
gnomAD v4: 6-31269532-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269532G>T , CM000668.2:g.31269532G>T GRCh38
NC_000006.11:g.31237309G>T , CM000668.1:g.31237309G>T GRCh37
NC_000006.10:g.31345288G>T NCBI36
NG_029422.2:g.7600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016-7C>A MANE Select ENSP00000365402.5:n.1016-7C>A
ENST00000376228.9:c.1016-7C>A ENSP00000365402.5:n.1016-7C>A
ENST00000376237.8:c.*603-7C>A ENSP00000365412.4:n.*603-7C>A
ENST00000383329.7:c.1027C>A ENSP00000372819.3:p.Pro343Thr
ENST00000466892.5:n.135C>A
ENST00000470363.5:n.767C>A
ENST00000487245.5:n.1375-7C>A
NM_002117.5:c.1016-7C>A NP_002108.4:n.1016-7C>A
NM_002117.6:c.1016-7C>A MANE Select NP_002108.4:n.1016-7C>A