Canonical Allele Identifier: CA130005
Gene: NFIX HGNC NCBI

Linked Data

ClinVar Variation Id: 36966
ClinVar RCV Id: RCV000030646
dbSNP Id: rs387907254

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13025172T>C , CM000681.2:g.13025172T>C GRCh38
NC_000019.9:g.13135986T>C , CM000681.1:g.13135986T>C GRCh37
NC_000019.8:g.12996986T>C NCBI36
NG_032925.2:g.34403T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358552.8:c.176T>C ENSP00000351354.5:p.Leu59Pro
ENST00000622520.2:c.176T>C ENSP00000481181.2:p.Leu59Pro
ENST00000592199.6:c.179T>C MANE Select ENSP00000467512.1:p.Leu60Pro
ENST00000676441.1:c.203T>C ENSP00000502554.1:p.Leu68Pro
ENST00000358552.7:c.188T>C ENSP00000351354.4:p.Leu63Pro
ENST00000360105.8:c.188T>C ENSP00000353219.4:p.Leu63Pro
ENST00000397661.6:c.179T>C ENSP00000380781.2:p.Leu60Pro
ENST00000585382.5:c.38T>C ENSP00000466605.1:p.Leu13Pro
ENST00000585575.5:c.155T>C ENSP00000468794.1:p.Leu52Pro
ENST00000586797.5:c.*10T>C ENSP00000467536.1:n.*10T>C
ENST00000586873.1:c.38T>C ENSP00000468707.1:p.Leu13Pro
ENST00000587260.1:c.176T>C ENSP00000467785.1:p.Leu59Pro
ENST00000587760.5:c.155T>C ENSP00000466389.1:p.Leu52Pro
ENST00000588228.5:c.38T>C ENSP00000466735.1:p.Leu13Pro
ENST00000590027.1:c.38T>C ENSP00000465616.1:p.Leu13Pro
ENST00000591028.1:c.227T>C ENSP00000465094.1:p.Leu76Pro
ENST00000592199.5:c.179T>C ENSP00000467512.1:p.Leu60Pro
NM_001271043.2:c.203T>C NP_001257972.1:p.Leu68Pro
NM_001271044.2:c.155T>C NP_001257973.1:p.Leu52Pro
NM_002501.3:c.179T>C NP_002492.2:p.Leu60Pro
XM_005259917.3:c.356T>C XP_005259974.1:p.Leu119Pro
XM_005259918.3:c.179T>C XP_005259975.1:p.Leu60Pro
XM_005259919.3:c.356T>C XP_005259976.1:p.Leu119Pro
XM_005259920.3:c.155T>C XP_005259977.1:p.Leu52Pro
XM_005259921.3:c.356T>C XP_005259978.1:p.Leu119Pro
XM_005259922.3:c.356T>C XP_005259979.1:p.Leu119Pro
XM_006722760.2:c.356T>C XP_006722823.1:p.Leu119Pro
XM_011528040.1:c.227T>C XP_011526342.1:p.Leu76Pro
NM_001365902.1:c.179T>C NP_001352831.1:p.Leu60Pro
NM_001365982.1:c.179T>C NP_001352911.1:p.Leu60Pro
NM_001365983.1:c.38T>C NP_001352912.1:p.Leu13Pro
NM_001365984.1:c.176T>C NP_001352913.1:p.Leu59Pro
NM_001365985.1:c.176T>C NP_001352914.1:p.Leu59Pro
XM_005259917.4:c.356T>C XP_005259974.1:p.Leu119Pro
NM_001271044.3:c.155T>C NP_001257973.1:p.Leu52Pro
NM_001365902.2:c.179T>C NP_001352831.1:p.Leu60Pro
NM_001365982.2:c.179T>C NP_001352911.1:p.Leu60Pro
NM_001365983.2:c.38T>C NP_001352912.1:p.Leu13Pro
NM_001365984.2:c.176T>C NP_001352913.1:p.Leu59Pro
NM_001365985.2:c.176T>C NP_001352914.1:p.Leu59Pro
NM_002501.4:c.179T>C NP_002492.2:p.Leu60Pro
NM_001365902.3:c.179T>C MANE Select NP_001352831.1:p.Leu60Pro
NM_001378404.1:c.155T>C NP_001365333.1:p.Leu52Pro
NM_001378405.1:c.227T>C NP_001365334.1:p.Leu76Pro