Canonical Allele Identifier: CA1087427685
Gene: HLA-C HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271475G>T , CM000668.2:g.31271475G>T GRCh38
NC_000006.11:g.31239252G>T , CM000668.1:g.31239252G>T GRCh37
NC_000006.10:g.31347231G>T NCBI36
NG_029422.2:g.5657C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.343+124C>A MANE Select ENSP00000365402.5:n.343+124C>A
ENST00000376228.9:c.343+124C>A ENSP00000365402.5:n.343+124C>A
ENST00000376237.8:c.343+124C>A ENSP00000365412.4:n.343+124C>A
ENST00000383329.7:c.343+124C>A ENSP00000372819.3:n.343+124C>A
ENST00000415537.1:c.341+124C>A
ENST00000484378.1:n.486C>A
ENST00000487245.5:n.576C>A
ENST00000495835.1:n.532+124C>A
NM_002117.5:c.343+124C>A NP_002108.4:n.343+124C>A
NM_002117.6:c.343+124C>A MANE Select NP_002108.4:n.343+124C>A