Canonical Allele Identifier: CA16608869

Gene: NFIX

Linked Data

• ClinVar Variation Id: 391930
• ClinVar RCV Id: RCV000421141
• dbSNP Id: rs1057524294
• gnomAD v2: 19-13192503-G-A
• gnomAD v4: 19-13081689-G-A
• MyVariant Identifiers: chr19:g.13192503G>A (hg19) ; chr19:g.13081689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13081689G>A , CM000681.2:g.13081689G>A	GRCh38
NC_000019.9:g.13192503G>A , CM000681.1:g.13192503G>A	GRCh37
NC_000019.8:g.13053503G>A	NCBI36
NG_032925.2:g.90920G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358552.8:c.962G>A	ENSP00000351354.5:p.Arg321Gln
ENST00000622520.2:c.1075+2954G>A	ENSP00000481181.2:n.1075+2954G>A
ENST00000693124.1:c.773+6018G>A
ENST00000592199.6:c.1088G>A MANE Select	ENSP00000467512.1:p.Arg363Gln
ENST00000676441.1:c.1112G>A	ENSP00000502554.1:p.Arg371Gln
ENST00000358552.7:c.974G>A	ENSP00000351354.4:p.Arg325Gln
ENST00000360105.8:c.974G>A	ENSP00000353219.4:p.Arg325Gln
ENST00000397661.6:c.1088G>A	ENSP00000380781.2:p.Arg363Gln
ENST00000585382.5:c.*457G>A	ENSP00000466605.1:n.*457G>A
ENST00000585575.5:c.1064G>A	ENSP00000468794.1:p.Arg355Gln
ENST00000586797.5:c.*919G>A	ENSP00000467536.1:n.*919G>A
ENST00000587260.1:c.1085G>A	ENSP00000467785.1:p.Arg362Gln
ENST00000587760.5:c.1064G>A	ENSP00000466389.1:p.Arg355Gln
ENST00000588228.5:c.947G>A	ENSP00000466735.1:p.Arg316Gln
ENST00000592199.5:c.1088G>A	ENSP00000467512.1:p.Arg363Gln
NM_001271043.2:c.1112G>A	NP_001257972.1:p.Arg371Gln
NM_001271044.2:c.1064G>A	NP_001257973.1:p.Arg355Gln
NM_002501.3:c.1088G>A	NP_002492.2:p.Arg363Gln
XM_005259917.3:c.1142G>A	XP_005259974.1:p.Arg381Gln
XM_005259918.3:c.1088G>A	XP_005259975.1:p.Arg363Gln
XM_005259919.3:c.1265G>A	XP_005259976.1:p.Arg422Gln
XM_005259920.3:c.1064G>A	XP_005259977.1:p.Arg355Gln
XM_005259921.3:c.1255+2954G>A	XP_005259978.1:n.1255+2954G>A
XM_005259922.3:c.1132+6018G>A	XP_005259979.1:n.1132+6018G>A
XM_006722760.2:c.1142G>A	XP_006722823.1:p.Arg381Gln
XM_011528040.1:c.1136G>A	XP_011526342.1:p.Arg379Gln
NM_001365902.1:c.1088G>A	NP_001352831.1:p.Arg363Gln
NM_001365982.1:c.965G>A	NP_001352911.1:p.Arg322Gln
NM_001365983.1:c.947G>A	NP_001352912.1:p.Arg316Gln
NM_001365984.1:c.1085G>A	NP_001352913.1:p.Arg362Gln
NM_001365985.1:c.1085G>A	NP_001352914.1:p.Arg362Gln
XM_005259917.4:c.1142G>A	XP_005259974.1:p.Arg381Gln
NM_001271044.3:c.1064G>A	NP_001257973.1:p.Arg355Gln
NM_001365902.2:c.1088G>A	NP_001352831.1:p.Arg363Gln
NM_001365982.2:c.965G>A	NP_001352911.1:p.Arg322Gln
NM_001365983.2:c.947G>A	NP_001352912.1:p.Arg316Gln
NM_001365984.2:c.1085G>A	NP_001352913.1:p.Arg362Gln
NM_001365985.2:c.1085G>A	NP_001352914.1:p.Arg362Gln
NM_002501.4:c.1088G>A	NP_002492.2:p.Arg363Gln
NM_001365902.3:c.1088G>A MANE Select	NP_001352831.1:p.Arg363Gln
NM_001378404.1:c.1064G>A	NP_001365333.1:p.Arg355Gln
NM_001378405.1:c.1136G>A	NP_001365334.1:p.Arg379Gln