Canonical Allele Identifier: CA2677949260
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269025-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269025C>A , CM000668.2:g.31269025C>A GRCh38
NC_000006.11:g.31236802C>A , CM000668.1:g.31236802C>A GRCh37
NC_000006.10:g.31344781C>A NCBI36
NG_029422.2:g.8107G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*144G>T MANE Select ENSP00000365402.5:n.*144G>T
ENST00000376228.9:c.*144G>T ENSP00000365402.5:n.*144G>T
ENST00000376237.8:c.*832G>T ENSP00000365412.4:n.*832G>T
ENST00000383329.7:c.*144G>T ENSP00000372819.3:n.*144G>T
ENST00000466892.5:n.478G>T
ENST00000470363.5:n.1003G>T
ENST00000487245.5:n.1604G>T
NM_002117.5:c.*144G>T NP_002108.4:n.*144G>T
NM_002117.6:c.*144G>T MANE Select NP_002108.4:n.*144G>T