Canonical Allele Identifier: CA354163577
Gene: CD86 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.122109381A>C
GRCh37 chr3:g.121828228A>C
Revel Score:
ENST00000469710 0.059
ENST00000493101 0.059
ENST00000330540 (MANE Select) 0.059
ENST00000264468 0.059
ENST00000393627 0.059
gnomAD v4:
chr3-122109381-A-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
2244729
ClinVar RCV:
RCV004102725
ClinVar Variation:
2247534
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122109381A>C , CM000665.2:g.122109381A>C GRCh38
NC_000003.11:g.121828228A>C , CM000665.1:g.121828228A>C GRCh37
NC_000003.10:g.123310918A>C NCBI36
NG_029928.1:g.59020A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330540.7:c.820A>C MANE Select ENSP00000332049.2:p.Lys274Gln
ENST00000264468.9:c.685+2881A>C ENSP00000264468.6:n.685+2881A>C
ENST00000330540.6:c.820A>C ENSP00000332049.2:p.Lys274Gln
ENST00000393627.6:c.802A>C ENSP00000377248.2:p.Lys268Gln
ENST00000469710.5:c.574A>C ENSP00000418988.1:p.Lys192Gln
ENST00000478741.1:c.689+2881A>C
ENST00000493101.5:c.484A>C ENSP00000420230.1:p.Lys162Gln
NM_001206924.1:c.484A>C NP_001193853.1:p.Lys162Gln
NM_001206925.1:c.574A>C NP_001193854.1:p.Lys192Gln
NM_006889.4:c.802A>C NP_008820.3:p.Lys268Gln
NM_175862.4:c.820A>C NP_787058.4:p.Lys274Gln
NM_176892.1:c.685+2881A>C NP_795711.1:n.685+2881A>C
NM_175862.5:c.820A>C MANE Select NP_787058.5:p.Lys274Gln
NM_001206924.2:c.484A>C NP_001193853.2:p.Lys162Gln
NM_001206925.2:c.574A>C NP_001193854.2:p.Lys192Gln
NM_006889.5:c.802A>C NP_008820.4:p.Lys268Gln
NM_176892.2:c.685+2881A>C NP_795711.2:n.685+2881A>C
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