Canonical Allele Identifier: CA363322271
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113906622
gnomAD v4: 6-31270405-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270405G>C , CM000668.2:g.31270405G>C GRCh38
NC_000006.11:g.31238182G>C , CM000668.1:g.31238182G>C GRCh37
NC_000006.10:g.31346161G>C NCBI36
NG_029422.2:g.6727C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.700C>G MANE Select ENSP00000365402.5:p.Pro234Ala
ENST00000376228.9:c.700C>G ENSP00000365402.5:p.Pro234Ala
ENST00000376237.8:c.*287C>G ENSP00000365412.4:n.*287C>G
ENST00000383329.7:c.700C>G ENSP00000372819.3:p.Pro234Ala
ENST00000415537.1:c.664+34C>G
ENST00000470363.5:n.18C>G
ENST00000487245.5:n.1059C>G
ENST00000495835.1:n.889C>G
NM_002117.5:c.700C>G NP_002108.4:p.Pro234Ala
NM_002117.6:c.700C>G MANE Select NP_002108.4:p.Pro234Ala