Canonical Allele Identifier: CA16618822

Gene: NFIB

Linked Data

• ClinVar Variation Id: 424344
• ClinVar RCV Id: RCV000480045 ; RCV000677901 ; RCV000754571
• dbSNP Id: rs764333096
• MyVariant Identifiers: chr9:g.14307285G>A (hg19) ; chr9:g.14307286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14307286G>A , CM000671.2:g.14307286G>A	GRCh38
NC_000009.11:g.14307285G>A , CM000671.1:g.14307285G>A	GRCh37
NC_000009.10:g.14297285G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397581.7:c.265C>T	ENSP00000380711.2:p.Arg89Ter
ENST00000380953.6:c.265C>T MANE Select	ENSP00000370340.1:p.Arg89Ter
ENST00000606230.2:c.253C>T	ENSP00000475813.2:p.Arg85Ter
ENST00000635877.1:c.243C>T
ENST00000636057.1:c.238C>T	ENSP00000490762.1:p.Arg80Ter
ENST00000636063.1:c.265C>T	ENSP00000489634.1:p.Arg89Ter
ENST00000636432.1:c.253C>T	ENSP00000490588.1:p.Arg85Ter
ENST00000637640.1:c.238C>T	ENSP00000490020.1:p.Arg80Ter
ENST00000637742.1:c.265C>T	ENSP00000490950.1:p.Arg89Ter
ENST00000646622.1:c.253C>T	ENSP00000496424.1:p.Arg85Ter
ENST00000380921.3:c.265C>T	ENSP00000370308.3:p.Arg89Ter
ENST00000380934.8:c.343C>T	ENSP00000370321.4:p.Arg115Ter
ENST00000380953.5:c.265C>T	ENSP00000370340.1:p.Arg89Ter
ENST00000380959.7:c.265C>T	ENSP00000370346.3:p.Arg89Ter
ENST00000397575.7:c.265C>T	ENSP00000380705.3:p.Arg89Ter
ENST00000397579.6:c.265C>T	ENSP00000380709.2:p.Arg89Ter
ENST00000397581.6:c.265C>T	ENSP00000380711.2:p.Arg89Ter
ENST00000493697.1:c.250C>T	ENSP00000475362.1:p.Arg84Ter
ENST00000622520.1:c.265C>T	ENSP00000481181.1:p.Arg89Ter
NM_001190737.1:c.265C>T	NP_001177666.1:p.Arg89Ter
NM_001190738.1:c.343C>T	NP_001177667.1:p.Arg115Ter
NM_005596.3:c.265C>T	NP_005587.2:p.Arg89Ter
XM_005251467.1:c.265C>T	XP_005251524.1:p.Arg89Ter
XM_005251468.3:c.253C>T	XP_005251525.1:p.Arg85Ter
XM_005251469.1:c.265C>T	XP_005251526.1:p.Arg89Ter
XM_005251470.1:c.265C>T	XP_005251527.1:p.Arg89Ter
XM_006716773.1:c.265C>T	XP_006716836.1:p.Arg89Ter
XM_006716774.1:c.265C>T	XP_006716837.1:p.Arg89Ter
XM_006716775.1:c.265C>T	XP_006716838.1:p.Arg89Ter
XM_011517886.1:c.265C>T	XP_011516188.1:p.Arg89Ter
XM_011517887.1:c.265C>T	XP_011516189.1:p.Arg89Ter
XM_005251467.3:c.265C>T	XP_005251524.1:p.Arg89Ter
XM_005251468.5:c.253C>T	XP_005251525.1:p.Arg85Ter
XM_005251469.3:c.265C>T	XP_005251526.1:p.Arg89Ter
XM_005251470.3:c.265C>T	XP_005251527.1:p.Arg89Ter
XM_006716773.3:c.265C>T	XP_006716836.1:p.Arg89Ter
XM_006716774.3:c.265C>T	XP_006716837.1:p.Arg89Ter
XM_006716775.3:c.265C>T	XP_006716838.1:p.Arg89Ter
XM_017014739.2:c.265C>T	XP_016870228.1:p.Arg89Ter
XM_017014740.1:c.253C>T	XP_016870229.1:p.Arg85Ter
XM_017014741.1:c.253C>T	XP_016870230.1:p.Arg85Ter
XM_024447555.1:c.253C>T	XP_024303323.1:p.Arg85Ter
XR_001746308.2:n.688C>T
XR_001746309.2:n.688C>T
NM_001190737.2:c.265C>T MANE Select	NP_001177666.1:p.Arg89Ter
NM_001369458.1:c.331C>T	NP_001356387.1:p.Arg111Ter
NM_001369459.1:c.331C>T	NP_001356388.1:p.Arg111Ter
NM_001369460.1:c.253C>T	NP_001356389.1:p.Arg85Ter
NM_001369461.1:c.265C>T	NP_001356390.1:p.Arg89Ter
NM_001369462.1:c.331C>T	NP_001356391.1:p.Arg111Ter
NM_001369463.1:c.253C>T	NP_001356392.1:p.Arg85Ter
NM_001369464.1:c.265C>T	NP_001356393.1:p.Arg89Ter
NM_001369465.1:c.238C>T	NP_001356394.1:p.Arg80Ter
NM_001369466.1:c.253C>T	NP_001356395.1:p.Arg85Ter
NM_001369467.1:c.238C>T	NP_001356396.1:p.Arg80Ter
NM_001369468.1:c.331C>T	NP_001356397.1:p.Arg111Ter
NM_001369469.1:c.121C>T	NP_001356398.1:p.Arg41Ter
NM_001369470.1:c.253C>T	NP_001356399.1:p.Arg85Ter
NM_001369471.1:c.265C>T	NP_001356400.1:p.Arg89Ter
NM_001369472.1:c.253C>T	NP_001356401.1:p.Arg85Ter
NM_001369473.1:c.253C>T	NP_001356402.1:p.Arg85Ter
NM_001369474.1:c.250C>T	NP_001356403.1:p.Arg84Ter
NM_001369475.1:c.265C>T	NP_001356404.1:p.Arg89Ter
NM_001369476.1:c.238C>T	NP_001356405.1:p.Arg80Ter
NM_001369477.1:c.265C>T	NP_001356406.1:p.Arg89Ter
NM_001369478.1:c.253C>T	NP_001356407.1:p.Arg85Ter
NM_001369481.1:c.265C>T	NP_001356410.1:p.Arg89Ter
NR_161382.1:n.96+7573C>T
NR_161383.1:n.447+14655C>T
NM_001190738.2:c.343C>T	NP_001177667.1:p.Arg115Ter