Canonical Allele Identifier: CA363322104
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270383-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270383C>G , CM000668.2:g.31270383C>G GRCh38
NC_000006.11:g.31238160C>G , CM000668.1:g.31238160C>G GRCh37
NC_000006.10:g.31346139C>G NCBI36
NG_029422.2:g.6749G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.722G>C MANE Select ENSP00000365402.5:p.Trp241Ser
ENST00000376228.9:c.722G>C ENSP00000365402.5:p.Trp241Ser
ENST00000376237.8:c.*309G>C ENSP00000365412.4:n.*309G>C
ENST00000383329.7:c.722G>C ENSP00000372819.3:p.Trp241Ser
ENST00000415537.1:c.665-52G>C
ENST00000470363.5:n.40G>C
ENST00000487245.5:n.1081G>C
ENST00000495835.1:n.911G>C
NM_002117.5:c.722G>C NP_002108.4:p.Trp241Ser
NM_002117.6:c.722G>C MANE Select NP_002108.4:p.Trp241Ser