Canonical Allele Identifier: CA1087428138
Gene: HLA-C HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271577G>A , CM000668.2:g.31271577G>A GRCh38
NC_000006.11:g.31239354G>A , CM000668.1:g.31239354G>A GRCh37
NC_000006.10:g.31347333G>A NCBI36
NG_029422.2:g.5555C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.343+22C>T MANE Select ENSP00000365402.5:n.343+22C>T
ENST00000376228.9:c.343+22C>T ENSP00000365402.5:n.343+22C>T
ENST00000376237.8:c.343+22C>T ENSP00000365412.4:n.343+22C>T
ENST00000383329.7:c.343+22C>T ENSP00000372819.3:n.343+22C>T
ENST00000415537.1:c.341+22C>T
ENST00000484378.1:n.384C>T
ENST00000487245.5:n.474C>T
ENST00000495835.1:n.532+22C>T
NM_002117.5:c.343+22C>T NP_002108.4:n.343+22C>T
NM_002117.6:c.343+22C>T MANE Select NP_002108.4:n.343+22C>T