Canonical Allele Identifier: CA1087449109
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269185-A-G
gnomAD v4: 6-31269185-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269185A>G , CM000668.2:g.31269185A>G GRCh38
NC_000006.11:g.31236962A>G , CM000668.1:g.31236962A>G GRCh37
NC_000006.10:g.31344941A>G NCBI36
NG_029422.2:g.7947T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.1097-12T>C MANE Select ENSP00000365402.5:n.1097-12T>C
ENST00000376228.9:c.1097-12T>C ENSP00000365402.5:n.1097-12T>C
ENST00000376237.8:c.*684-12T>C ENSP00000365412.4:n.*684-12T>C
ENST00000383329.7:c.1115-12T>C ENSP00000372819.3:n.1115-12T>C
ENST00000466892.5:n.330-12T>C
ENST00000470363.5:n.855-12T>C
ENST00000487245.5:n.1456-12T>C
NM_002117.5:c.1097-12T>C NP_002108.4:n.1097-12T>C
NM_002117.6:c.1097-12T>C MANE Select NP_002108.4:n.1097-12T>C