Canonical Allele Identifier: CA566688996
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1325013546
gnomAD v2: 6-31239162-C-T
gnomAD v3: 6-31271385-C-T
gnomAD v4: 6-31271385-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271385C>T , CM000668.2:g.31271385C>T GRCh38
NC_000006.11:g.31239162C>T , CM000668.1:g.31239162C>T GRCh37
NC_000006.10:g.31347141C>T NCBI36
NG_029422.2:g.5747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.344-37G>A MANE Select ENSP00000365402.5:n.344-37G>A
ENST00000376228.9:c.344-37G>A ENSP00000365402.5:n.344-37G>A
ENST00000376237.8:c.344-54G>A ENSP00000365412.4:n.344-54G>A
ENST00000383329.7:c.344-37G>A ENSP00000372819.3:n.344-37G>A
ENST00000415537.1:c.342-37G>A
ENST00000484378.1:n.576G>A
ENST00000487245.5:n.666G>A
ENST00000495835.1:n.533-37G>A
NM_002117.5:c.344-37G>A NP_002108.4:n.344-37G>A
NM_002117.6:c.344-37G>A MANE Select NP_002108.4:n.344-37G>A