Canonical Allele Identifier: CA404313648

Gene: NFIX

Linked Data

• ClinVar Variation Id: 2092634
• ClinVar RCV Id: RCV003008259
• MyVariant Identifiers: chr19:g.13135994G>A (hg19) ; chr19:g.13025180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13025180G>A , CM000681.2:g.13025180G>A	GRCh38
NC_000019.9:g.13135994G>A , CM000681.1:g.13135994G>A	GRCh37
NC_000019.8:g.12996994G>A	NCBI36
NG_032925.2:g.34411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358552.8:c.184G>A	ENSP00000351354.5:p.Glu62Lys
ENST00000622520.2:c.184G>A	ENSP00000481181.2:p.Glu62Lys
ENST00000693124.1:c.5G>A
ENST00000592199.6:c.187G>A MANE Select	ENSP00000467512.1:p.Glu63Lys
ENST00000676441.1:c.211G>A	ENSP00000502554.1:p.Glu71Lys
ENST00000358552.7:c.196G>A	ENSP00000351354.4:p.Glu66Lys
ENST00000360105.8:c.196G>A	ENSP00000353219.4:p.Glu66Lys
ENST00000397661.6:c.187G>A	ENSP00000380781.2:p.Glu63Lys
ENST00000585382.5:c.46G>A	ENSP00000466605.1:p.Glu16Lys
ENST00000585575.5:c.163G>A	ENSP00000468794.1:p.Glu55Lys
ENST00000586797.5:c.*18G>A	ENSP00000467536.1:n.*18G>A
ENST00000586873.1:c.46G>A	ENSP00000468707.1:p.Glu16Lys
ENST00000587260.1:c.184G>A	ENSP00000467785.1:p.Glu62Lys
ENST00000587760.5:c.163G>A	ENSP00000466389.1:p.Glu55Lys
ENST00000588228.5:c.46G>A	ENSP00000466735.1:p.Glu16Lys
ENST00000590027.1:c.46G>A	ENSP00000465616.1:p.Glu16Lys
ENST00000591028.1:c.235G>A	ENSP00000465094.1:p.Glu79Lys
ENST00000592199.5:c.187G>A	ENSP00000467512.1:p.Glu63Lys
NM_001271043.2:c.211G>A	NP_001257972.1:p.Glu71Lys
NM_001271044.2:c.163G>A	NP_001257973.1:p.Glu55Lys
NM_002501.3:c.187G>A	NP_002492.2:p.Glu63Lys
XM_005259917.3:c.364G>A	XP_005259974.1:p.Glu122Lys
XM_005259918.3:c.187G>A	XP_005259975.1:p.Glu63Lys
XM_005259919.3:c.364G>A	XP_005259976.1:p.Glu122Lys
XM_005259920.3:c.163G>A	XP_005259977.1:p.Glu55Lys
XM_005259921.3:c.364G>A	XP_005259978.1:p.Glu122Lys
XM_005259922.3:c.364G>A	XP_005259979.1:p.Glu122Lys
XM_006722760.2:c.364G>A	XP_006722823.1:p.Glu122Lys
XM_011528040.1:c.235G>A	XP_011526342.1:p.Glu79Lys
NM_001365902.1:c.187G>A	NP_001352831.1:p.Glu63Lys
NM_001365982.1:c.187G>A	NP_001352911.1:p.Glu63Lys
NM_001365983.1:c.46G>A	NP_001352912.1:p.Glu16Lys
NM_001365984.1:c.184G>A	NP_001352913.1:p.Glu62Lys
NM_001365985.1:c.184G>A	NP_001352914.1:p.Glu62Lys
XM_005259917.4:c.364G>A	XP_005259974.1:p.Glu122Lys
NM_001271044.3:c.163G>A	NP_001257973.1:p.Glu55Lys
NM_001365902.2:c.187G>A	NP_001352831.1:p.Glu63Lys
NM_001365982.2:c.187G>A	NP_001352911.1:p.Glu63Lys
NM_001365983.2:c.46G>A	NP_001352912.1:p.Glu16Lys
NM_001365984.2:c.184G>A	NP_001352913.1:p.Glu62Lys
NM_001365985.2:c.184G>A	NP_001352914.1:p.Glu62Lys
NM_002501.4:c.187G>A	NP_002492.2:p.Glu63Lys
NM_001365902.3:c.187G>A MANE Select	NP_001352831.1:p.Glu63Lys
NM_001378404.1:c.163G>A	NP_001365333.1:p.Glu55Lys
NM_001378405.1:c.235G>A	NP_001365334.1:p.Glu79Lys