Canonical Allele Identifier: CA404314267

Gene: NFIX

Linked Data

• gnomAD v4: 19-13025315-C-T
• MyVariant Identifiers: chr19:g.13136129C>T (hg19) ; chr19:g.13025315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13025315C>T , CM000681.2:g.13025315C>T	GRCh38
NC_000019.9:g.13136129C>T , CM000681.1:g.13136129C>T	GRCh37
NC_000019.8:g.12997129C>T	NCBI36
NG_032925.2:g.34546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358552.8:c.319C>T	ENSP00000351354.5:p.Pro107Ser
ENST00000622520.2:c.319C>T	ENSP00000481181.2:p.Pro107Ser
ENST00000693124.1:c.140C>T
ENST00000592199.6:c.322C>T MANE Select	ENSP00000467512.1:p.Pro108Ser
ENST00000676441.1:c.346C>T	ENSP00000502554.1:p.Pro116Ser
ENST00000358552.7:c.331C>T	ENSP00000351354.4:p.Pro111Ser
ENST00000360105.8:c.331C>T	ENSP00000353219.4:p.Pro111Ser
ENST00000397661.6:c.322C>T	ENSP00000380781.2:p.Pro108Ser
ENST00000585382.5:c.181C>T	ENSP00000466605.1:p.Pro61Ser
ENST00000585575.5:c.298C>T	ENSP00000468794.1:p.Pro100Ser
ENST00000586797.5:c.*153C>T	ENSP00000467536.1:n.*153C>T
ENST00000586873.1:c.181C>T	ENSP00000468707.1:p.Pro61Ser
ENST00000587260.1:c.319C>T	ENSP00000467785.1:p.Pro107Ser
ENST00000587760.5:c.298C>T	ENSP00000466389.1:p.Pro100Ser
ENST00000588228.5:c.181C>T	ENSP00000466735.1:p.Pro61Ser
ENST00000590027.1:c.181C>T	ENSP00000465616.1:p.Pro61Ser
ENST00000591028.1:c.370C>T	ENSP00000465094.1:p.Pro124Ser
ENST00000592199.5:c.322C>T	ENSP00000467512.1:p.Pro108Ser
NM_001271043.2:c.346C>T	NP_001257972.1:p.Pro116Ser
NM_001271044.2:c.298C>T	NP_001257973.1:p.Pro100Ser
NM_002501.3:c.322C>T	NP_002492.2:p.Pro108Ser
XM_005259917.3:c.499C>T	XP_005259974.1:p.Pro167Ser
XM_005259918.3:c.322C>T	XP_005259975.1:p.Pro108Ser
XM_005259919.3:c.499C>T	XP_005259976.1:p.Pro167Ser
XM_005259920.3:c.298C>T	XP_005259977.1:p.Pro100Ser
XM_005259921.3:c.499C>T	XP_005259978.1:p.Pro167Ser
XM_005259922.3:c.499C>T	XP_005259979.1:p.Pro167Ser
XM_006722760.2:c.499C>T	XP_006722823.1:p.Pro167Ser
XM_011528040.1:c.370C>T	XP_011526342.1:p.Pro124Ser
NM_001365902.1:c.322C>T	NP_001352831.1:p.Pro108Ser
NM_001365982.1:c.322C>T	NP_001352911.1:p.Pro108Ser
NM_001365983.1:c.181C>T	NP_001352912.1:p.Pro61Ser
NM_001365984.1:c.319C>T	NP_001352913.1:p.Pro107Ser
NM_001365985.1:c.319C>T	NP_001352914.1:p.Pro107Ser
XM_005259917.4:c.499C>T	XP_005259974.1:p.Pro167Ser
NM_001271044.3:c.298C>T	NP_001257973.1:p.Pro100Ser
NM_001365902.2:c.322C>T	NP_001352831.1:p.Pro108Ser
NM_001365982.2:c.322C>T	NP_001352911.1:p.Pro108Ser
NM_001365983.2:c.181C>T	NP_001352912.1:p.Pro61Ser
NM_001365984.2:c.319C>T	NP_001352913.1:p.Pro107Ser
NM_001365985.2:c.319C>T	NP_001352914.1:p.Pro107Ser
NM_002501.4:c.322C>T	NP_002492.2:p.Pro108Ser
NM_001365902.3:c.322C>T MANE Select	NP_001352831.1:p.Pro108Ser
NM_001378404.1:c.298C>T	NP_001365333.1:p.Pro100Ser
NM_001378405.1:c.370C>T	NP_001365334.1:p.Pro124Ser