Canonical Allele Identifier: CA158221452

Gene: IKZF1

Linked Data

• dbSNP Id: rs979869025
• gnomAD v3: 7-50394725-T-C
• gnomAD v4: 7-50394725-T-C
• MyVariant Identifiers: chr7:g.50462423T>C (hg19) ; chr7:g.50394725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50394725T>C , CM000669.2:g.50394725T>C	GRCh38
NC_000007.13:g.50462423T>C , CM000669.1:g.50462423T>C	GRCh37
NC_000007.12:g.50429917T>C	NCBI36
NG_034231.1:g.95643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642219.2:c.649+2862T>C	ENSP00000496655.2:n.649+2862T>C
ENST00000698573.1:c.329-5193T>C	ENSP00000513804.1:n.329-5193T>C
ENST00000698574.1:c.910+2862T>C	ENSP00000513805.1:n.910+2862T>C
ENST00000698575.1:c.422-5193T>C	ENSP00000513806.1:n.422-5193T>C
ENST00000698577.1:n.85+2892T>C
ENST00000331340.8:c.850+2862T>C MANE Select	ENSP00000331614.3:n.850+2862T>C
ENST00000439701.2:c.724+2862T>C	ENSP00000413025.1:n.724+2862T>C
ENST00000645066.1:c.463+2862T>C	ENSP00000494055.1:n.463+2862T>C
ENST00000331340.7:c.850+2862T>C	ENSP00000331614.3:n.850+2862T>C
ENST00000343574.9:c.589+2862T>C	ENSP00000342750.5:n.589+2862T>C
ENST00000346667.8:c.41-5193T>C	ENSP00000340080.5:n.41-5193T>C
ENST00000349824.8:c.422-5193T>C	ENSP00000342485.4:n.422-5193T>C
ENST00000357364.8:c.590-5193T>C	ENSP00000349928.4:n.590-5193T>C
ENST00000359197.9:c.724+2862T>C	ENSP00000352123.5:n.724+2862T>C
ENST00000426121.1:c.110-5193T>C	ENSP00000409588.1:n.110-5193T>C
ENST00000438033.5:c.589+2862T>C	ENSP00000396554.1:n.589+2862T>C
ENST00000439701.1:c.724+2862T>C	ENSP00000413025.1:n.724+2862T>C
ENST00000440768.6:c.175+2862T>C	ENSP00000401507.3:n.175+2862T>C
ENST00000471793.1:n.1069+2862T>C
ENST00000612658.4:c.295-5390T>C	ENSP00000483016.1:n.295-5390T>C
ENST00000615491.4:c.301+2862T>C	ENSP00000478368.1:n.301+2862T>C
NM_001220765.2:c.724+2862T>C	NP_001207694.1:n.724+2862T>C
NM_001220767.2:c.559+2892T>C	NP_001207696.1:n.559+2892T>C
NM_001220768.2:c.590-5193T>C	NP_001207697.1:n.590-5193T>C
NM_001220770.2:c.433+2892T>C	NP_001207699.1:n.433+2892T>C
NM_001220771.2:c.422-5193T>C	NP_001207700.1:n.422-5193T>C
NM_001291837.1:c.724+2862T>C	NP_001278766.1:n.724+2862T>C
NM_001291838.1:c.589+2862T>C	NP_001278767.1:n.589+2862T>C
NM_001291839.1:c.463+2862T>C	NP_001278768.1:n.463+2862T>C
NM_001291840.1:c.161-5193T>C	NP_001278769.1:n.161-5193T>C
NM_001291841.1:c.421+2862T>C	NP_001278770.1:n.421+2862T>C
NM_001291842.1:c.391+2892T>C	NP_001278771.1:n.391+2892T>C
NM_001291843.1:c.295+2862T>C	NP_001278772.1:n.295+2862T>C
NM_001291844.1:c.265+2892T>C	NP_001278773.1:n.265+2892T>C
NM_006060.5:c.850+2862T>C	NP_006051.1:n.850+2862T>C
XM_011515058.1:c.982+2862T>C	XP_011513360.1:n.982+2862T>C
XM_011515059.1:c.952+2892T>C	XP_011513361.1:n.952+2892T>C
XM_011515060.1:c.940+2862T>C	XP_011513362.1:n.940+2862T>C
XM_011515061.1:c.922+2862T>C	XP_011513363.1:n.922+2862T>C
XM_011515062.1:c.910+2862T>C	XP_011513364.1:n.910+2862T>C
XM_011515063.1:c.910+2862T>C	XP_011513365.1:n.910+2862T>C
XM_011515064.1:c.910+2862T>C	XP_011513366.1:n.910+2862T>C
XM_011515065.1:c.910+2862T>C	XP_011513367.1:n.910+2862T>C
XM_011515066.1:c.910+2862T>C	XP_011513368.1:n.910+2862T>C
XM_011515067.1:c.856+2862T>C	XP_011513369.1:n.856+2862T>C
XM_011515068.1:c.850+2862T>C	XP_011513370.1:n.850+2862T>C
XM_011515069.1:c.850+2862T>C	XP_011513371.1:n.850+2862T>C
XM_011515070.1:c.796+2862T>C	XP_011513372.1:n.796+2862T>C
XM_011515071.1:c.721+2862T>C	XP_011513373.1:n.721+2862T>C
XM_011515072.1:c.661+2862T>C	XP_011513374.1:n.661+2862T>C
XM_011515073.1:c.649+2862T>C	XP_011513375.1:n.649+2862T>C
XM_011515074.1:c.631+2892T>C	XP_011513376.1:n.631+2892T>C
XM_011515075.1:c.589+2862T>C	XP_011513377.1:n.589+2862T>C
XM_011515076.1:c.589+2862T>C	XP_011513378.1:n.589+2862T>C
XM_011515077.1:c.535+2862T>C	XP_011513379.1:n.535+2862T>C
XM_011515078.1:c.505+2892T>C	XP_011513380.1:n.505+2892T>C
XR_927257.1:n.4666A>G
NM_006060.6:c.850+2862T>C MANE Select	NP_006051.1:n.850+2862T>C
XM_011515058.2:c.982+2862T>C	XP_011513360.1:n.982+2862T>C
XM_011515059.3:c.952+2892T>C	XP_011513361.1:n.952+2892T>C
XM_011515060.2:c.940+2862T>C	XP_011513362.1:n.940+2862T>C
XM_011515061.3:c.922+2862T>C	XP_011513363.1:n.922+2862T>C
XM_011515062.2:c.910+2862T>C	XP_011513364.1:n.910+2862T>C
XM_011515063.2:c.910+2862T>C	XP_011513365.1:n.910+2862T>C
XM_011515064.3:c.910+2862T>C	XP_011513366.1:n.910+2862T>C
XM_011515065.2:c.910+2862T>C	XP_011513367.1:n.910+2862T>C
XM_011515066.2:c.910+2862T>C	XP_011513368.1:n.910+2862T>C
XM_011515067.3:c.856+2862T>C	XP_011513369.1:n.856+2862T>C
XM_011515068.2:c.850+2862T>C	XP_011513370.1:n.850+2862T>C
XM_011515069.2:c.850+2862T>C	XP_011513371.1:n.850+2862T>C
XM_011515070.2:c.796+2862T>C	XP_011513372.1:n.796+2862T>C
XM_011515071.2:c.721+2862T>C	XP_011513373.1:n.721+2862T>C
XM_011515072.2:c.661+2862T>C	XP_011513374.1:n.661+2862T>C
XM_011515073.2:c.649+2862T>C	XP_011513375.1:n.649+2862T>C
XM_011515074.2:c.631+2892T>C	XP_011513376.1:n.631+2892T>C
XM_011515075.2:c.589+2862T>C	XP_011513377.1:n.589+2862T>C
XM_011515076.2:c.589+2862T>C	XP_011513378.1:n.589+2862T>C
XM_011515077.2:c.535+2862T>C	XP_011513379.1:n.535+2862T>C
XM_011515078.2:c.505+2892T>C	XP_011513380.1:n.505+2892T>C
XM_017011667.1:c.649+2862T>C	XP_016867156.1:n.649+2862T>C
XM_017011668.1:c.589+2862T>C	XP_016867157.1:n.589+2862T>C
XM_017011669.1:c.*2851T>C	XP_016867158.1:n.*2851T>C
XM_017011670.1:c.*2851T>C	XP_016867159.1:n.*2851T>C
NM_001220765.3:c.724+2862T>C	NP_001207694.1:n.724+2862T>C
NM_001291837.2:c.724+2862T>C	NP_001278766.1:n.724+2862T>C
NM_001291838.2:c.589+2862T>C	NP_001278767.1:n.589+2862T>C
NM_001291839.2:c.463+2862T>C	NP_001278768.1:n.463+2862T>C