Canonical Allele Identifier: CA404303572
Gene: NFIX HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000358552.8:c.962G>T ENSP00000351354.5:p.Arg321Leu
ENST00000622520.2:c.1075+2954G>T ENSP00000481181.2:n.1075+2954G>T
ENST00000693124.1:c.773+6018G>T
ENST00000592199.6:c.1088G>T MANE Select ENSP00000467512.1:p.Arg363Leu
ENST00000676441.1:c.1112G>T ENSP00000502554.1:p.Arg371Leu
ENST00000358552.7:c.974G>T ENSP00000351354.4:p.Arg325Leu
ENST00000360105.8:c.974G>T ENSP00000353219.4:p.Arg325Leu
ENST00000397661.6:c.1088G>T ENSP00000380781.2:p.Arg363Leu
ENST00000585382.5:c.*457G>T ENSP00000466605.1:n.*457G>T
ENST00000585575.5:c.1064G>T ENSP00000468794.1:p.Arg355Leu
ENST00000586797.5:c.*919G>T ENSP00000467536.1:n.*919G>T
ENST00000587260.1:c.1085G>T ENSP00000467785.1:p.Arg362Leu
ENST00000587760.5:c.1064G>T ENSP00000466389.1:p.Arg355Leu
ENST00000588228.5:c.947G>T ENSP00000466735.1:p.Arg316Leu
ENST00000592199.5:c.1088G>T ENSP00000467512.1:p.Arg363Leu
NM_001271043.2:c.1112G>T NP_001257972.1:p.Arg371Leu
NM_001271044.2:c.1064G>T NP_001257973.1:p.Arg355Leu
NM_002501.3:c.1088G>T NP_002492.2:p.Arg363Leu
XM_005259917.3:c.1142G>T XP_005259974.1:p.Arg381Leu
XM_005259918.3:c.1088G>T XP_005259975.1:p.Arg363Leu
XM_005259919.3:c.1265G>T XP_005259976.1:p.Arg422Leu
XM_005259920.3:c.1064G>T XP_005259977.1:p.Arg355Leu
XM_005259921.3:c.1255+2954G>T XP_005259978.1:n.1255+2954G>T
XM_005259922.3:c.1132+6018G>T XP_005259979.1:n.1132+6018G>T
XM_006722760.2:c.1142G>T XP_006722823.1:p.Arg381Leu
XM_011528040.1:c.1136G>T XP_011526342.1:p.Arg379Leu
NM_001365902.1:c.1088G>T NP_001352831.1:p.Arg363Leu
NM_001365982.1:c.965G>T NP_001352911.1:p.Arg322Leu
NM_001365983.1:c.947G>T NP_001352912.1:p.Arg316Leu
NM_001365984.1:c.1085G>T NP_001352913.1:p.Arg362Leu
NM_001365985.1:c.1085G>T NP_001352914.1:p.Arg362Leu
XM_005259917.4:c.1142G>T XP_005259974.1:p.Arg381Leu
NM_001271044.3:c.1064G>T NP_001257973.1:p.Arg355Leu
NM_001365902.2:c.1088G>T NP_001352831.1:p.Arg363Leu
NM_001365982.2:c.965G>T NP_001352911.1:p.Arg322Leu
NM_001365983.2:c.947G>T NP_001352912.1:p.Arg316Leu
NM_001365984.2:c.1085G>T NP_001352913.1:p.Arg362Leu
NM_001365985.2:c.1085G>T NP_001352914.1:p.Arg362Leu
NM_002501.4:c.1088G>T NP_002492.2:p.Arg363Leu
NM_001365902.3:c.1088G>T MANE Select NP_001352831.1:p.Arg363Leu
NM_001378404.1:c.1064G>T NP_001365333.1:p.Arg355Leu
NM_001378405.1:c.1136G>T NP_001365334.1:p.Arg379Leu