Canonical Allele Identifier: CA404313335

Gene: NFIX

Linked Data

• ClinVar Variation Id: 452926
• ClinVar RCV Id: RCV000519161 ; RCV001263215 ; RCV003766975
• dbSNP Id: rs1555696484
• MyVariant Identifiers: chr19:g.13135950T>A (hg19) ; chr19:g.13025136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13025136T>A , CM000681.2:g.13025136T>A	GRCh38
NC_000019.9:g.13135950T>A , CM000681.1:g.13135950T>A	GRCh37
NC_000019.8:g.12996950T>A	NCBI36
NG_032925.2:g.34367T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358552.8:c.140T>A	ENSP00000351354.5:p.Met47Lys
ENST00000622520.2:c.140T>A	ENSP00000481181.2:p.Met47Lys
ENST00000592199.6:c.143T>A MANE Select	ENSP00000467512.1:p.Met48Lys
ENST00000676441.1:c.167T>A	ENSP00000502554.1:p.Met56Lys
ENST00000358552.7:c.152T>A	ENSP00000351354.4:p.Met51Lys
ENST00000360105.8:c.152T>A	ENSP00000353219.4:p.Met51Lys
ENST00000397661.6:c.143T>A	ENSP00000380781.2:p.Met48Lys
ENST00000585382.5:c.2T>A	ENSP00000466605.1:p.Met1Lys
ENST00000585575.5:c.119T>A	ENSP00000468794.1:p.Met40Lys
ENST00000586797.5:c.154T>A	ENSP00000467536.1:p.Cys52Ser
ENST00000586873.1:c.2T>A	ENSP00000468707.1:p.Met1Lys
ENST00000587260.1:c.140T>A	ENSP00000467785.1:p.Met47Lys
ENST00000587760.5:c.119T>A	ENSP00000466389.1:p.Met40Lys
ENST00000588228.5:c.2T>A	ENSP00000466735.1:p.Met1Lys
ENST00000590027.1:c.2T>A	ENSP00000465616.1:p.Met1Lys
ENST00000591028.1:c.191T>A	ENSP00000465094.1:p.Met64Lys
ENST00000592199.5:c.143T>A	ENSP00000467512.1:p.Met48Lys
NM_001271043.2:c.167T>A	NP_001257972.1:p.Met56Lys
NM_001271044.2:c.119T>A	NP_001257973.1:p.Met40Lys
NM_002501.3:c.143T>A	NP_002492.2:p.Met48Lys
XM_005259917.3:c.320T>A	XP_005259974.1:p.Met107Lys
XM_005259918.3:c.143T>A	XP_005259975.1:p.Met48Lys
XM_005259919.3:c.320T>A	XP_005259976.1:p.Met107Lys
XM_005259920.3:c.119T>A	XP_005259977.1:p.Met40Lys
XM_005259921.3:c.320T>A	XP_005259978.1:p.Met107Lys
XM_005259922.3:c.320T>A	XP_005259979.1:p.Met107Lys
XM_006722760.2:c.320T>A	XP_006722823.1:p.Met107Lys
XM_011528040.1:c.191T>A	XP_011526342.1:p.Met64Lys
NM_001365902.1:c.143T>A	NP_001352831.1:p.Met48Lys
NM_001365982.1:c.143T>A	NP_001352911.1:p.Met48Lys
NM_001365983.1:c.2T>A	NP_001352912.1:p.Met1Lys
NM_001365984.1:c.140T>A	NP_001352913.1:p.Met47Lys
NM_001365985.1:c.140T>A	NP_001352914.1:p.Met47Lys
XM_005259917.4:c.320T>A	XP_005259974.1:p.Met107Lys
NM_001271044.3:c.119T>A	NP_001257973.1:p.Met40Lys
NM_001365902.2:c.143T>A	NP_001352831.1:p.Met48Lys
NM_001365982.2:c.143T>A	NP_001352911.1:p.Met48Lys
NM_001365983.2:c.2T>A	NP_001352912.1:p.Met1Lys
NM_001365984.2:c.140T>A	NP_001352913.1:p.Met47Lys
NM_001365985.2:c.140T>A	NP_001352914.1:p.Met47Lys
NM_002501.4:c.143T>A	NP_002492.2:p.Met48Lys
NM_001365902.3:c.143T>A MANE Select	NP_001352831.1:p.Met48Lys
NM_001378404.1:c.119T>A	NP_001365333.1:p.Met40Lys
NM_001378405.1:c.191T>A	NP_001365334.1:p.Met64Lys