Canonical Allele Identifier: CA454931706
Gene: IKZF1 HGNC NCBI

Linked Data

dbSNP Id: rs1812178659
MyVariant Identifiers: chr7:g.50450380C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50382682C>A , CM000669.2:g.50382682C>A GRCh38
NC_000007.13:g.50450380C>A , CM000669.1:g.50450380C>A GRCh37
NC_000007.12:g.50417874C>A NCBI36
NG_034231.1:g.83600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642219.2:c.363C>A ENSP00000496655.2:p.Leu121=
ENST00000698573.1:c.303C>A ENSP00000513804.1:p.Leu101=
ENST00000698574.1:c.624C>A ENSP00000513805.1:p.Leu208=
ENST00000698575.1:c.421+5889C>A ENSP00000513806.1:n.421+5889C>A
ENST00000331340.8:c.564C>A MANE Select ENSP00000331614.3:p.Leu188=
ENST00000439701.2:c.564C>A ENSP00000413025.1:p.Leu188=
ENST00000645066.1:c.303C>A ENSP00000494055.1:p.Leu101=
ENST00000331340.7:c.564C>A ENSP00000331614.3:p.Leu188=
ENST00000343574.9:c.303C>A ENSP00000342750.5:p.Leu101=
ENST00000346667.8:c.41-17236C>A ENSP00000340080.5:n.41-17236C>A
ENST00000349824.8:c.421+5889C>A ENSP00000342485.4:n.421+5889C>A
ENST00000357364.8:c.564C>A ENSP00000349928.4:p.Leu188=
ENST00000359197.9:c.564C>A ENSP00000352123.5:p.Leu188=
ENST00000426121.1:c.110-17236C>A ENSP00000409588.1:n.110-17236C>A
ENST00000438033.5:c.303C>A ENSP00000396554.1:p.Leu101=
ENST00000439701.1:c.564C>A ENSP00000413025.1:p.Leu188=
ENST00000440768.6:c.41-9047C>A ENSP00000401507.3:n.41-9047C>A
ENST00000471793.1:n.783C>A
ENST00000612658.4:c.294+69C>A ENSP00000483016.1:n.294+69C>A
ENST00000615491.4:c.41-4663C>A ENSP00000478368.1:n.41-4663C>A
NM_001220765.2:c.564C>A NP_001207694.1:p.Leu188=
NM_001220767.2:c.303C>A NP_001207696.1:p.Leu101=
NM_001220768.2:c.564C>A NP_001207697.1:p.Leu188=
NM_001220770.2:c.303C>A NP_001207699.1:p.Leu101=
NM_001220771.2:c.421+5889C>A NP_001207700.1:n.421+5889C>A
NM_001291837.1:c.564C>A NP_001278766.1:p.Leu188=
NM_001291838.1:c.303C>A NP_001278767.1:p.Leu101=
NM_001291839.1:c.303C>A NP_001278768.1:p.Leu101=
NM_001291840.1:c.161-17236C>A NP_001278769.1:n.161-17236C>A
NM_001291841.1:c.161-4663C>A NP_001278770.1:n.161-4663C>A
NM_001291842.1:c.161-4663C>A NP_001278771.1:n.161-4663C>A
NM_001291843.1:c.161-9047C>A NP_001278772.1:n.161-9047C>A
NM_001291844.1:c.161-9047C>A NP_001278773.1:n.161-9047C>A
NM_006060.5:c.564C>A NP_006051.1:p.Leu188=
XM_011515058.1:c.696C>A XP_011513360.1:p.Leu232=
XM_011515059.1:c.696C>A XP_011513361.1:p.Leu232=
XM_011515060.1:c.654C>A XP_011513362.1:p.Leu218=
XM_011515061.1:c.636C>A XP_011513363.1:p.Leu212=
XM_011515062.1:c.624C>A XP_011513364.1:p.Leu208=
XM_011515063.1:c.624C>A XP_011513365.1:p.Leu208=
XM_011515064.1:c.624C>A XP_011513366.1:p.Leu208=
XM_011515065.1:c.624C>A XP_011513367.1:p.Leu208=
XM_011515066.1:c.624C>A XP_011513368.1:p.Leu208=
XM_011515067.1:c.696C>A XP_011513369.1:p.Leu232=
XM_011515068.1:c.564C>A XP_011513370.1:p.Leu188=
XM_011515069.1:c.564C>A XP_011513371.1:p.Leu188=
XM_011515070.1:c.636C>A XP_011513372.1:p.Leu212=
XM_011515071.1:c.435C>A XP_011513373.1:p.Leu145=
XM_011515072.1:c.375C>A XP_011513374.1:p.Leu125=
XM_011515073.1:c.363C>A XP_011513375.1:p.Leu121=
XM_011515074.1:c.375C>A XP_011513376.1:p.Leu125=
XM_011515075.1:c.303C>A XP_011513377.1:p.Leu101=
XM_011515076.1:c.303C>A XP_011513378.1:p.Leu101=
XM_011515077.1:c.375C>A XP_011513379.1:p.Leu125=
XM_011515078.1:c.375C>A XP_011513380.1:p.Leu125=
NM_006060.6:c.564C>A MANE Select NP_006051.1:p.Leu188=
XM_011515058.2:c.696C>A XP_011513360.1:p.Leu232=
XM_011515059.3:c.696C>A XP_011513361.1:p.Leu232=
XM_011515060.2:c.654C>A XP_011513362.1:p.Leu218=
XM_011515061.3:c.636C>A XP_011513363.1:p.Leu212=
XM_011515062.2:c.624C>A XP_011513364.1:p.Leu208=
XM_011515063.2:c.624C>A XP_011513365.1:p.Leu208=
XM_011515064.3:c.624C>A XP_011513366.1:p.Leu208=
XM_011515065.2:c.624C>A XP_011513367.1:p.Leu208=
XM_011515066.2:c.624C>A XP_011513368.1:p.Leu208=
XM_011515067.3:c.696C>A XP_011513369.1:p.Leu232=
XM_011515068.2:c.564C>A XP_011513370.1:p.Leu188=
XM_011515069.2:c.564C>A XP_011513371.1:p.Leu188=
XM_011515070.2:c.636C>A XP_011513372.1:p.Leu212=
XM_011515071.2:c.435C>A XP_011513373.1:p.Leu145=
XM_011515072.2:c.375C>A XP_011513374.1:p.Leu125=
XM_011515073.2:c.363C>A XP_011513375.1:p.Leu121=
XM_011515074.2:c.375C>A XP_011513376.1:p.Leu125=
XM_011515075.2:c.303C>A XP_011513377.1:p.Leu101=
XM_011515076.2:c.303C>A XP_011513378.1:p.Leu101=
XM_011515077.2:c.375C>A XP_011513379.1:p.Leu125=
XM_011515078.2:c.375C>A XP_011513380.1:p.Leu125=
XM_017011667.1:c.363C>A XP_016867156.1:p.Leu121=
XM_017011668.1:c.303C>A XP_016867157.1:p.Leu101=
XM_017011669.1:c.564C>A XP_016867158.1:p.Leu188=
XM_017011670.1:c.564C>A XP_016867159.1:p.Leu188=
NM_001220765.3:c.564C>A NP_001207694.1:p.Leu188=
NM_001291837.2:c.564C>A NP_001278766.1:p.Leu188=
NM_001291838.2:c.303C>A NP_001278767.1:p.Leu101=
NM_001291839.2:c.303C>A NP_001278768.1:p.Leu101=