Canonical Allele Identifier: CA449610189
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2308618
gnomAD v3: 6-31270349-G-C
gnomAD v4: 6-31270349-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270349G>C , CM000668.2:g.31270349G>C GRCh38
NC_000006.11:g.31238126G>C , CM000668.1:g.31238126G>C GRCh37
NC_000006.10:g.31346105G>C NCBI36
NG_029422.2:g.6783C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.756C>G MANE Select ENSP00000365402.5:p.Thr252=
ENST00000376228.9:c.756C>G ENSP00000365402.5:p.Thr252=
ENST00000376237.8:c.*343C>G ENSP00000365412.4:n.*343C>G
ENST00000383329.7:c.756C>G ENSP00000372819.3:p.Thr252=
ENST00000415537.1:c.665-18C>G
ENST00000470363.5:n.74C>G
ENST00000487245.5:n.1115C>G
ENST00000495835.1:n.945C>G
NM_002117.5:c.756C>G NP_002108.4:p.Thr252=
NM_002117.6:c.756C>G MANE Select NP_002108.4:p.Thr252=