Canonical Allele Identifier: CA823861141
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1480246009
gnomAD v3: 6-31269397-C-A
gnomAD v4: 6-31269397-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269397C>A , CM000668.2:g.31269397C>A GRCh38
NC_000006.11:g.31237174C>A , CM000668.1:g.31237174C>A GRCh37
NC_000006.10:g.31345153C>A NCBI36
NG_029422.2:g.7735G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1049-12G>T MANE Select ENSP00000365402.5:n.1049-12G>T
ENST00000376228.9:c.1049-12G>T ENSP00000365402.5:n.1049-12G>T
ENST00000376237.8:c.*636-12G>T ENSP00000365412.4:n.*636-12G>T
ENST00000383329.7:c.1067-12G>T ENSP00000372819.3:n.1067-12G>T
ENST00000466892.5:n.270G>T
ENST00000470363.5:n.807-12G>T
ENST00000487245.5:n.1408-12G>T
NM_002117.5:c.1049-12G>T NP_002108.4:n.1049-12G>T
NM_002117.6:c.1049-12G>T MANE Select NP_002108.4:n.1049-12G>T