Canonical Allele Identifier: CA566689035
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1269703976
gnomAD v2: 6-31239139-C-T
gnomAD v4: 6-31271362-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271362C>T , CM000668.2:g.31271362C>T GRCh38
NC_000006.11:g.31239139C>T , CM000668.1:g.31239139C>T GRCh37
NC_000006.10:g.31347118C>T NCBI36
NG_029422.2:g.5770G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.344-14G>A MANE Select ENSP00000365402.5:n.344-14G>A
ENST00000376228.9:c.344-14G>A ENSP00000365402.5:n.344-14G>A
ENST00000376237.8:c.344-31G>A ENSP00000365412.4:n.344-31G>A
ENST00000383329.7:c.344-14G>A ENSP00000372819.3:n.344-14G>A
ENST00000415537.1:c.342-14G>A
ENST00000484378.1:n.599G>A
ENST00000487245.5:n.689G>A
ENST00000495835.1:n.533-14G>A
NM_002117.5:c.344-14G>A NP_002108.4:n.344-14G>A
NM_002117.6:c.344-14G>A MANE Select NP_002108.4:n.344-14G>A