Canonical Allele Identifier: CA3710248
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs778748999
ExAC: 6:31237086 C / T
gnomAD v2: 6-31237086-C-T
gnomAD v4: 6-31269309-C-T
MyVariant Identifiers: chr6:g.31237086C>T (hg19) chr6:g.31269309C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269309C>T , CM000668.2:g.31269309C>T GRCh38
NC_000006.11:g.31237086C>T , CM000668.1:g.31237086C>T GRCh37
NC_000006.10:g.31345065C>T NCBI36
NG_029422.2:g.7823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1096+29G>A MANE Select ENSP00000365402.5:n.1096+29G>A
ENST00000376228.9:c.1096+29G>A ENSP00000365402.5:n.1096+29G>A
ENST00000376237.8:c.*683+29G>A ENSP00000365412.4:n.*683+29G>A
ENST00000383329.7:c.1114+29G>A ENSP00000372819.3:n.1114+29G>A
ENST00000466892.5:n.329+29G>A
ENST00000470363.5:n.854+29G>A
ENST00000487245.5:n.1455+29G>A
NM_002117.5:c.1096+29G>A NP_002108.4:n.1096+29G>A
NM_002117.6:c.1096+29G>A MANE Select NP_002108.4:n.1096+29G>A
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