Canonical Allele Identifier: CA363320821
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270294-C-G
gnomAD v4: 6-31270294-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270294C>G , CM000668.2:g.31270294C>G GRCh38
NC_000006.11:g.31238071C>G , CM000668.1:g.31238071C>G GRCh37
NC_000006.10:g.31346050C>G NCBI36
NG_029422.2:g.6838G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.811G>C MANE Select ENSP00000365402.5:p.Val271Leu
ENST00000376228.9:c.811G>C ENSP00000365402.5:p.Val271Leu
ENST00000376237.8:c.*398G>C ENSP00000365412.4:n.*398G>C
ENST00000383329.7:c.811G>C ENSP00000372819.3:p.Val271Leu
ENST00000415537.1:c.702G>C
ENST00000470363.5:n.129G>C
ENST00000487245.5:n.1170G>C
ENST00000495835.1:n.1000G>C
NM_002117.5:c.811G>C NP_002108.4:p.Val271Leu
NM_002117.6:c.811G>C MANE Select NP_002108.4:p.Val271Leu