Canonical Allele Identifier: CA6982503
Gene: PHF11 HGNC NCBI
COSMIC:
COSN17911040 (not active)
COSN26727795 (not active)
MyVariant.info:
GRCh38 chr13:g.49528674G>A
GRCh37 chr13:g.50102810G>A
gnomAD v2:
13:50102810 G / A
gnomAD v3:
13:49528674 G / A
gnomAD v4:
chr13-49528674-G-A
Joint Max Group AF 0.53227057 (NFE)
Genomes Max Group AF 0.52812019 (NFE)
Exomes Max Group AF 0.53227758 (NFE)
ClinVar RCV:
RCV003974504
ClinVar Variation:
3059533
dbSNP:
1046295
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49528674G>A , CM000675.2:g.49528674G>A GRCh38
NC_000013.10:g.50102810G>A , CM000675.1:g.50102810G>A GRCh37
NC_000013.9:g.49000811G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378319.8:c.*9G>A MANE Select ENSP00000367570.3:n.*9G>A
ENST00000357596.7:c.*9G>A ENSP00000350209.3:n.*9G>A
ENST00000378319.7:c.*9G>A ENSP00000367570.3:n.*9G>A
ENST00000426879.5:c.869G>A
ENST00000465045.5:c.*372G>A ENSP00000418630.1:n.*372G>A
ENST00000486276.1:n.434G>A
ENST00000488958.5:c.*9G>A ENSP00000417539.1:n.*9G>A
ENST00000621822.4:c.*313G>A ENSP00000482432.1:n.*313G>A
NM_001040443.1:c.*9G>A NP_001035533.1:n.*9G>A
NM_001040444.1:c.*9G>A NP_001035534.1:n.*9G>A
XM_005266417.2:c.*9G>A XP_005266474.1:n.*9G>A
XM_006719829.1:c.*9G>A XP_006719892.1:n.*9G>A
XM_006719830.1:c.*9G>A XP_006719893.1:n.*9G>A
XM_011535102.1:c.*9G>A XP_011533404.1:n.*9G>A
XR_941597.1:n.1329G>A
NM_001040443.2:c.*9G>A NP_001035533.1:n.*9G>A
NM_001040444.2:c.*9G>A NP_001035534.1:n.*9G>A
NM_001320727.1:c.*9G>A NP_001307656.1:n.*9G>A
NR_135322.1:n.1275G>A
NR_135323.1:n.1374G>A
NR_135324.1:n.3597G>A
NM_001040443.3:c.*9G>A MANE Select NP_001035533.1:n.*9G>A
NM_001320727.2:c.*9G>A NP_001307656.1:n.*9G>A
NR_135322.2:n.932G>A
NR_135323.2:n.1324G>A
NR_135324.2:n.3616G>A
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