Canonical Allele Identifier: CA3710360
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41540512
gnomAD v2: 6-31237774-G-C
gnomAD v3: 6-31269997-G-C
gnomAD v4: 6-31269997-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269997G>C , CM000668.2:g.31269997G>C GRCh38
NC_000006.11:g.31237774G>C , CM000668.1:g.31237774G>C GRCh37
NC_000006.10:g.31345753G>C NCBI36
NG_029422.2:g.7135C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.984C>G MANE Select ENSP00000365402.5:p.Val328=
ENST00000376228.9:c.984C>G ENSP00000365402.5:p.Val328=
ENST00000376237.8:c.*571C>G ENSP00000365412.4:n.*571C>G
ENST00000383329.7:c.984C>G ENSP00000372819.3:p.Val328=
ENST00000470363.5:n.302C>G
ENST00000487245.5:n.1343C>G
NM_002117.5:c.984C>G NP_002108.4:p.Val328=
NM_002117.6:c.984C>G MANE Select NP_002108.4:p.Val328=