Canonical Allele Identifier: CA353698

Gene: IKZF1

Linked Data

• ClinVar Variation Id: 224778
• ClinVar RCV Id: RCV000210351 ; RCV002515583
• dbSNP Id: rs770551610
• MyVariant Identifiers: chr7:g.50450301G>T (hg19) ; chr7:g.50382603G>T (hg38)
• PubMed: PMID:26981933

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50382603G>T , CM000669.2:g.50382603G>T	GRCh38
NC_000007.13:g.50450301G>T , CM000669.1:g.50450301G>T	GRCh37
NC_000007.12:g.50417795G>T	NCBI36
NG_034231.1:g.83521G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642219.2:c.284G>T	ENSP00000496655.2:p.Arg95Leu
ENST00000698573.1:c.224G>T	ENSP00000513804.1:p.Arg75Leu
ENST00000698574.1:c.545G>T	ENSP00000513805.1:p.Arg182Leu
ENST00000698575.1:c.421+5810G>T	ENSP00000513806.1:n.421+5810G>T
ENST00000331340.8:c.485G>T MANE Select	ENSP00000331614.3:p.Arg162Leu
ENST00000439701.2:c.485G>T	ENSP00000413025.1:p.Arg162Leu
ENST00000645066.1:c.224G>T	ENSP00000494055.1:p.Arg75Leu
ENST00000331340.7:c.485G>T	ENSP00000331614.3:p.Arg162Leu
ENST00000343574.9:c.224G>T	ENSP00000342750.5:p.Arg75Leu
ENST00000346667.8:c.41-17315G>T	ENSP00000340080.5:n.41-17315G>T
ENST00000349824.8:c.421+5810G>T	ENSP00000342485.4:n.421+5810G>T
ENST00000357364.8:c.485G>T	ENSP00000349928.4:p.Arg162Leu
ENST00000359197.9:c.485G>T	ENSP00000352123.5:p.Arg162Leu
ENST00000426121.1:c.110-17315G>T	ENSP00000409588.1:n.110-17315G>T
ENST00000438033.5:c.224G>T	ENSP00000396554.1:p.Arg75Leu
ENST00000439701.1:c.485G>T	ENSP00000413025.1:p.Arg162Leu
ENST00000440768.6:c.41-9126G>T	ENSP00000401507.3:n.41-9126G>T
ENST00000471793.1:n.704G>T
ENST00000612658.4:c.284G>T	ENSP00000483016.1:p.Arg95Leu
ENST00000615491.4:c.41-4742G>T	ENSP00000478368.1:n.41-4742G>T
NM_001220765.2:c.485G>T	NP_001207694.1:p.Arg162Leu
NM_001220767.2:c.224G>T	NP_001207696.1:p.Arg75Leu
NM_001220768.2:c.485G>T	NP_001207697.1:p.Arg162Leu
NM_001220770.2:c.224G>T	NP_001207699.1:p.Arg75Leu
NM_001220771.2:c.421+5810G>T	NP_001207700.1:n.421+5810G>T
NM_001291837.1:c.485G>T	NP_001278766.1:p.Arg162Leu
NM_001291838.1:c.224G>T	NP_001278767.1:p.Arg75Leu
NM_001291839.1:c.224G>T	NP_001278768.1:p.Arg75Leu
NM_001291840.1:c.161-17315G>T	NP_001278769.1:n.161-17315G>T
NM_001291841.1:c.161-4742G>T	NP_001278770.1:n.161-4742G>T
NM_001291842.1:c.161-4742G>T	NP_001278771.1:n.161-4742G>T
NM_001291843.1:c.161-9126G>T	NP_001278772.1:n.161-9126G>T
NM_001291844.1:c.161-9126G>T	NP_001278773.1:n.161-9126G>T
NM_006060.5:c.485G>T	NP_006051.1:p.Arg162Leu
XM_011515058.1:c.617G>T	XP_011513360.1:p.Arg206Leu
XM_011515059.1:c.617G>T	XP_011513361.1:p.Arg206Leu
XM_011515060.1:c.575G>T	XP_011513362.1:p.Arg192Leu
XM_011515061.1:c.557G>T	XP_011513363.1:p.Arg186Leu
XM_011515062.1:c.545G>T	XP_011513364.1:p.Arg182Leu
XM_011515063.1:c.545G>T	XP_011513365.1:p.Arg182Leu
XM_011515064.1:c.545G>T	XP_011513366.1:p.Arg182Leu
XM_011515065.1:c.545G>T	XP_011513367.1:p.Arg182Leu
XM_011515066.1:c.545G>T	XP_011513368.1:p.Arg182Leu
XM_011515067.1:c.617G>T	XP_011513369.1:p.Arg206Leu
XM_011515068.1:c.485G>T	XP_011513370.1:p.Arg162Leu
XM_011515069.1:c.485G>T	XP_011513371.1:p.Arg162Leu
XM_011515070.1:c.557G>T	XP_011513372.1:p.Arg186Leu
XM_011515071.1:c.356G>T	XP_011513373.1:p.Arg119Leu
XM_011515072.1:c.296G>T	XP_011513374.1:p.Arg99Leu
XM_011515073.1:c.284G>T	XP_011513375.1:p.Arg95Leu
XM_011515074.1:c.296G>T	XP_011513376.1:p.Arg99Leu
XM_011515075.1:c.224G>T	XP_011513377.1:p.Arg75Leu
XM_011515076.1:c.224G>T	XP_011513378.1:p.Arg75Leu
XM_011515077.1:c.296G>T	XP_011513379.1:p.Arg99Leu
XM_011515078.1:c.296G>T	XP_011513380.1:p.Arg99Leu
NM_006060.6:c.485G>T MANE Select	NP_006051.1:p.Arg162Leu
XM_011515058.2:c.617G>T	XP_011513360.1:p.Arg206Leu
XM_011515059.3:c.617G>T	XP_011513361.1:p.Arg206Leu
XM_011515060.2:c.575G>T	XP_011513362.1:p.Arg192Leu
XM_011515061.3:c.557G>T	XP_011513363.1:p.Arg186Leu
XM_011515062.2:c.545G>T	XP_011513364.1:p.Arg182Leu
XM_011515063.2:c.545G>T	XP_011513365.1:p.Arg182Leu
XM_011515064.3:c.545G>T	XP_011513366.1:p.Arg182Leu
XM_011515065.2:c.545G>T	XP_011513367.1:p.Arg182Leu
XM_011515066.2:c.545G>T	XP_011513368.1:p.Arg182Leu
XM_011515067.3:c.617G>T	XP_011513369.1:p.Arg206Leu
XM_011515068.2:c.485G>T	XP_011513370.1:p.Arg162Leu
XM_011515069.2:c.485G>T	XP_011513371.1:p.Arg162Leu
XM_011515070.2:c.557G>T	XP_011513372.1:p.Arg186Leu
XM_011515071.2:c.356G>T	XP_011513373.1:p.Arg119Leu
XM_011515072.2:c.296G>T	XP_011513374.1:p.Arg99Leu
XM_011515073.2:c.284G>T	XP_011513375.1:p.Arg95Leu
XM_011515074.2:c.296G>T	XP_011513376.1:p.Arg99Leu
XM_011515075.2:c.224G>T	XP_011513377.1:p.Arg75Leu
XM_011515076.2:c.224G>T	XP_011513378.1:p.Arg75Leu
XM_011515077.2:c.296G>T	XP_011513379.1:p.Arg99Leu
XM_011515078.2:c.296G>T	XP_011513380.1:p.Arg99Leu
XM_017011667.1:c.284G>T	XP_016867156.1:p.Arg95Leu
XM_017011668.1:c.224G>T	XP_016867157.1:p.Arg75Leu
XM_017011669.1:c.485G>T	XP_016867158.1:p.Arg162Leu
XM_017011670.1:c.485G>T	XP_016867159.1:p.Arg162Leu
NM_001220765.3:c.485G>T	NP_001207694.1:p.Arg162Leu
NM_001291837.2:c.485G>T	NP_001278766.1:p.Arg162Leu
NM_001291838.2:c.224G>T	NP_001278767.1:p.Arg75Leu
NM_001291839.2:c.224G>T	NP_001278768.1:p.Arg75Leu