Canonical Allele Identifier: CA609604297

Gene: PHF11

Linked Data

• dbSNP Id: rs1485398763
• gnomAD v2: 13-50102811-T-C
• gnomAD v3: 13-49528675-T-C
• gnomAD v4: 13-49528675-T-C
• MyVariant Identifiers: chr13:g.50102811T>C (hg19) ; chr13:g.49528675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49528675T>C , CM000675.2:g.49528675T>C	GRCh38
NC_000013.10:g.50102811T>C , CM000675.1:g.50102811T>C	GRCh37
NC_000013.9:g.49000812T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000378319.8:c.*10T>C MANE Select	ENSP00000367570.3:n.*10T>C
ENST00000357596.7:c.*10T>C	ENSP00000350209.3:n.*10T>C
ENST00000378319.7:c.*10T>C	ENSP00000367570.3:n.*10T>C
ENST00000426879.5:c.870T>C
ENST00000465045.5:c.*373T>C	ENSP00000418630.1:n.*373T>C
ENST00000486276.1:n.435T>C
ENST00000488958.5:c.*10T>C	ENSP00000417539.1:n.*10T>C
ENST00000621822.4:c.*314T>C	ENSP00000482432.1:n.*314T>C
NM_001040443.1:c.*10T>C	NP_001035533.1:n.*10T>C
NM_001040444.1:c.*10T>C	NP_001035534.1:n.*10T>C
XM_005266417.2:c.*10T>C	XP_005266474.1:n.*10T>C
XM_006719829.1:c.*10T>C	XP_006719892.1:n.*10T>C
XM_006719830.1:c.*10T>C	XP_006719893.1:n.*10T>C
XM_011535102.1:c.*10T>C	XP_011533404.1:n.*10T>C
XR_941597.1:n.1330T>C
NM_001040443.2:c.*10T>C	NP_001035533.1:n.*10T>C
NM_001040444.2:c.*10T>C	NP_001035534.1:n.*10T>C
NM_001320727.1:c.*10T>C	NP_001307656.1:n.*10T>C
NR_135322.1:n.1276T>C
NR_135323.1:n.1375T>C
NR_135324.1:n.3598T>C
NM_001040443.3:c.*10T>C MANE Select	NP_001035533.1:n.*10T>C
NM_001320727.2:c.*10T>C	NP_001307656.1:n.*10T>C
NR_135322.2:n.933T>C
NR_135323.2:n.1325T>C
NR_135324.2:n.3617T>C