Canonical Allele Identifier: CA404303512

Gene: NFIX

Linked Data

• MyVariant Identifiers: chr19:g.13192498C>A (hg19) ; chr19:g.13081684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13081684C>A , CM000681.2:g.13081684C>A	GRCh38
NC_000019.9:g.13192498C>A , CM000681.1:g.13192498C>A	GRCh37
NC_000019.8:g.13053498C>A	NCBI36
NG_032925.2:g.90915C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358552.8:c.957C>A	ENSP00000351354.5:p.Ser319Arg
ENST00000622520.2:c.1075+2949C>A	ENSP00000481181.2:n.1075+2949C>A
ENST00000693124.1:c.773+6013C>A
ENST00000592199.6:c.1083C>A MANE Select	ENSP00000467512.1:p.Ser361Arg
ENST00000676441.1:c.1107C>A	ENSP00000502554.1:p.Ser369Arg
ENST00000358552.7:c.969C>A	ENSP00000351354.4:p.Ser323Arg
ENST00000360105.8:c.969C>A	ENSP00000353219.4:p.Ser323Arg
ENST00000397661.6:c.1083C>A	ENSP00000380781.2:p.Ser361Arg
ENST00000585382.5:c.*452C>A	ENSP00000466605.1:n.*452C>A
ENST00000585575.5:c.1059C>A	ENSP00000468794.1:p.Ser353Arg
ENST00000586797.5:c.*914C>A	ENSP00000467536.1:n.*914C>A
ENST00000587260.1:c.1080C>A	ENSP00000467785.1:p.Ser360Arg
ENST00000587760.5:c.1059C>A	ENSP00000466389.1:p.Ser353Arg
ENST00000588228.5:c.942C>A	ENSP00000466735.1:p.Ser314Arg
ENST00000592199.5:c.1083C>A	ENSP00000467512.1:p.Ser361Arg
NM_001271043.2:c.1107C>A	NP_001257972.1:p.Ser369Arg
NM_001271044.2:c.1059C>A	NP_001257973.1:p.Ser353Arg
NM_002501.3:c.1083C>A	NP_002492.2:p.Ser361Arg
XM_005259917.3:c.1137C>A	XP_005259974.1:p.Ser379Arg
XM_005259918.3:c.1083C>A	XP_005259975.1:p.Ser361Arg
XM_005259919.3:c.1260C>A	XP_005259976.1:p.Ser420Arg
XM_005259920.3:c.1059C>A	XP_005259977.1:p.Ser353Arg
XM_005259921.3:c.1255+2949C>A	XP_005259978.1:n.1255+2949C>A
XM_005259922.3:c.1132+6013C>A	XP_005259979.1:n.1132+6013C>A
XM_006722760.2:c.1137C>A	XP_006722823.1:p.Ser379Arg
XM_011528040.1:c.1131C>A	XP_011526342.1:p.Ser377Arg
NM_001365902.1:c.1083C>A	NP_001352831.1:p.Ser361Arg
NM_001365982.1:c.960C>A	NP_001352911.1:p.Ser320Arg
NM_001365983.1:c.942C>A	NP_001352912.1:p.Ser314Arg
NM_001365984.1:c.1080C>A	NP_001352913.1:p.Ser360Arg
NM_001365985.1:c.1080C>A	NP_001352914.1:p.Ser360Arg
XM_005259917.4:c.1137C>A	XP_005259974.1:p.Ser379Arg
NM_001271044.3:c.1059C>A	NP_001257973.1:p.Ser353Arg
NM_001365902.2:c.1083C>A	NP_001352831.1:p.Ser361Arg
NM_001365982.2:c.960C>A	NP_001352911.1:p.Ser320Arg
NM_001365983.2:c.942C>A	NP_001352912.1:p.Ser314Arg
NM_001365984.2:c.1080C>A	NP_001352913.1:p.Ser360Arg
NM_001365985.2:c.1080C>A	NP_001352914.1:p.Ser360Arg
NM_002501.4:c.1083C>A	NP_002492.2:p.Ser361Arg
NM_001365902.3:c.1083C>A MANE Select	NP_001352831.1:p.Ser361Arg
NM_001378404.1:c.1059C>A	NP_001365333.1:p.Ser353Arg
NM_001378405.1:c.1131C>A	NP_001365334.1:p.Ser377Arg