Canonical Allele Identifier: CA3710548
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs72558149
gnomAD v2: 6-31238036-C-T
gnomAD v4: 6-31270259-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270259C>T , CM000668.2:g.31270259C>T GRCh38
NC_000006.11:g.31238036C>T , CM000668.1:g.31238036C>T GRCh37
NC_000006.10:g.31346015C>T NCBI36
NG_029422.2:g.6873G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.846G>A MANE Select ENSP00000365402.5:p.Thr282=
ENST00000376228.9:c.846G>A ENSP00000365402.5:p.Thr282=
ENST00000376237.8:c.*433G>A ENSP00000365412.4:n.*433G>A
ENST00000383329.7:c.846G>A ENSP00000372819.3:p.Thr282=
ENST00000415537.1:c.737G>A
ENST00000470363.5:n.164G>A
ENST00000487245.5:n.1205G>A
ENST00000495835.1:n.1035G>A
NM_002117.5:c.846G>A NP_002108.4:p.Thr282=
NM_002117.6:c.846G>A MANE Select NP_002108.4:p.Thr282=