Canonical Allele Identifier: CA483745541

Gene: PHF11

Linked Data

• MyVariant Identifiers: chr13:g.50102714T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49528578T>G , CM000675.2:g.49528578T>G	GRCh38
NC_000013.10:g.50102714T>G , CM000675.1:g.50102714T>G	GRCh37
NC_000013.9:g.49000715T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000378319.8:c.909T>G MANE Select	ENSP00000367570.3:p.Leu303=
ENST00000357596.7:c.792T>G	ENSP00000350209.3:p.Leu264=
ENST00000378319.7:c.909T>G	ENSP00000367570.3:p.Leu303=
ENST00000426879.5:c.773T>G
ENST00000465045.5:c.*276T>G	ENSP00000418630.1:n.*276T>G
ENST00000486276.1:n.338T>G
ENST00000488958.5:c.792T>G	ENSP00000417539.1:p.Leu264=
ENST00000621822.4:c.*217T>G	ENSP00000482432.1:n.*217T>G
NM_001040443.1:c.909T>G	NP_001035533.1:p.Leu303=
NM_001040444.1:c.792T>G	NP_001035534.1:p.Leu264=
XM_005266417.2:c.423T>G	XP_005266474.1:p.Leu141=
XM_006719829.1:c.792T>G	XP_006719892.1:p.Leu264=
XM_006719830.1:c.792T>G	XP_006719893.1:p.Leu264=
XM_011535102.1:c.792T>G	XP_011533404.1:p.Leu264=
XR_941597.1:n.1233T>G
NM_001040443.2:c.909T>G	NP_001035533.1:p.Leu303=
NM_001040444.2:c.792T>G	NP_001035534.1:p.Leu264=
NM_001320727.1:c.2391T>G	NP_001307656.1:p.Leu797=
NR_135322.1:n.1179T>G
NR_135323.1:n.1278T>G
NR_135324.1:n.3501T>G
NM_001040443.3:c.909T>G MANE Select	NP_001035533.1:p.Leu303=
NM_001320727.2:c.2391T>G	NP_001307656.1:p.Leu797=
NR_135322.2:n.836T>G
NR_135323.2:n.1228T>G
NR_135324.2:n.3520T>G