Canonical Allele Identifier: CA404315567

Gene: NFIX

Linked Data

• COSMIC: COSM5545395 ; COSM5545396 ; COSM5545397 ; COSM5545398
• MyVariant Identifiers: chr19:g.13136283C>T (hg19) ; chr19:g.13025469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13025469C>T , CM000681.2:g.13025469C>T	GRCh38
NC_000019.9:g.13136283C>T , CM000681.1:g.13136283C>T	GRCh37
NC_000019.8:g.12997283C>T	NCBI36
NG_032925.2:g.34700C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358552.8:c.473C>T	ENSP00000351354.5:p.Pro158Leu
ENST00000622520.2:c.473C>T	ENSP00000481181.2:p.Pro158Leu
ENST00000693124.1:c.294C>T
ENST00000592199.6:c.476C>T MANE Select	ENSP00000467512.1:p.Pro159Leu
ENST00000676441.1:c.500C>T	ENSP00000502554.1:p.Pro167Leu
ENST00000358552.7:c.485C>T	ENSP00000351354.4:p.Pro162Leu
ENST00000360105.8:c.485C>T	ENSP00000353219.4:p.Pro162Leu
ENST00000397661.6:c.476C>T	ENSP00000380781.2:p.Pro159Leu
ENST00000585382.5:c.234+101C>T	ENSP00000466605.1:n.234+101C>T
ENST00000585575.5:c.452C>T	ENSP00000468794.1:p.Pro151Leu
ENST00000586797.5:c.*307C>T	ENSP00000467536.1:n.*307C>T
ENST00000586873.1:c.335C>T	ENSP00000468707.1:p.Pro112Leu
ENST00000587260.1:c.473C>T	ENSP00000467785.1:p.Pro158Leu
ENST00000587760.5:c.452C>T	ENSP00000466389.1:p.Pro151Leu
ENST00000588228.5:c.335C>T	ENSP00000466735.1:p.Pro112Leu
ENST00000590027.1:c.335C>T	ENSP00000465616.1:p.Pro112Leu
ENST00000591028.1:c.524C>T	ENSP00000465094.1:p.Pro175Leu
ENST00000592199.5:c.476C>T	ENSP00000467512.1:p.Pro159Leu
NM_001271043.2:c.500C>T	NP_001257972.1:p.Pro167Leu
NM_001271044.2:c.452C>T	NP_001257973.1:p.Pro151Leu
NM_002501.3:c.476C>T	NP_002492.2:p.Pro159Leu
XM_005259917.3:c.653C>T	XP_005259974.1:p.Pro218Leu
XM_005259918.3:c.476C>T	XP_005259975.1:p.Pro159Leu
XM_005259919.3:c.653C>T	XP_005259976.1:p.Pro218Leu
XM_005259920.3:c.452C>T	XP_005259977.1:p.Pro151Leu
XM_005259921.3:c.653C>T	XP_005259978.1:p.Pro218Leu
XM_005259922.3:c.653C>T	XP_005259979.1:p.Pro218Leu
XM_006722760.2:c.653C>T	XP_006722823.1:p.Pro218Leu
XM_011528040.1:c.524C>T	XP_011526342.1:p.Pro175Leu
NM_001365902.1:c.476C>T	NP_001352831.1:p.Pro159Leu
NM_001365982.1:c.476C>T	NP_001352911.1:p.Pro159Leu
NM_001365983.1:c.335C>T	NP_001352912.1:p.Pro112Leu
NM_001365984.1:c.473C>T	NP_001352913.1:p.Pro158Leu
NM_001365985.1:c.473C>T	NP_001352914.1:p.Pro158Leu
XM_005259917.4:c.653C>T	XP_005259974.1:p.Pro218Leu
NM_001271044.3:c.452C>T	NP_001257973.1:p.Pro151Leu
NM_001365902.2:c.476C>T	NP_001352831.1:p.Pro159Leu
NM_001365982.2:c.476C>T	NP_001352911.1:p.Pro159Leu
NM_001365983.2:c.335C>T	NP_001352912.1:p.Pro112Leu
NM_001365984.2:c.473C>T	NP_001352913.1:p.Pro158Leu
NM_001365985.2:c.473C>T	NP_001352914.1:p.Pro158Leu
NM_002501.4:c.476C>T	NP_002492.2:p.Pro159Leu
NM_001365902.3:c.476C>T MANE Select	NP_001352831.1:p.Pro159Leu
NM_001378404.1:c.452C>T	NP_001365333.1:p.Pro151Leu
NM_001378405.1:c.524C>T	NP_001365334.1:p.Pro175Leu