Canonical Allele Identifier: CA1087423989
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270598-C-T
gnomAD v4: 6-31270598-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270598C>T , CM000668.2:g.31270598C>T GRCh38
NC_000006.11:g.31238375C>T , CM000668.1:g.31238375C>T GRCh37
NC_000006.10:g.31346354C>T NCBI36
NG_029422.2:g.6534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.620-113G>A MANE Select ENSP00000365402.5:n.620-113G>A
ENST00000376228.9:c.620-113G>A ENSP00000365402.5:n.620-113G>A
ENST00000376237.8:c.*207-113G>A ENSP00000365412.4:n.*207-113G>A
ENST00000383329.7:c.620-113G>A ENSP00000372819.3:n.620-113G>A
ENST00000415537.1:c.618-113G>A
ENST00000487245.5:n.979-113G>A
ENST00000495835.1:n.809-113G>A
NM_002117.5:c.620-113G>A NP_002108.4:n.620-113G>A
NM_002117.6:c.620-113G>A MANE Select NP_002108.4:n.620-113G>A