Canonical Allele Identifier: CA404303504

Gene: NFIX

Linked Data

• ClinVar Variation Id: 2500469
• ClinVar RCV Id: RCV003225381
• MyVariant Identifiers: chr19:g.13192496A>G (hg19) ; chr19:g.13081682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13081682A>G , CM000681.2:g.13081682A>G	GRCh38
NC_000019.9:g.13192496A>G , CM000681.1:g.13192496A>G	GRCh37
NC_000019.8:g.13053496A>G	NCBI36
NG_032925.2:g.90913A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358552.8:c.955A>G	ENSP00000351354.5:p.Ser319Gly
ENST00000622520.2:c.1075+2947A>G	ENSP00000481181.2:n.1075+2947A>G
ENST00000693124.1:c.773+6011A>G
ENST00000592199.6:c.1081A>G MANE Select	ENSP00000467512.1:p.Ser361Gly
ENST00000676441.1:c.1105A>G	ENSP00000502554.1:p.Ser369Gly
ENST00000358552.7:c.967A>G	ENSP00000351354.4:p.Ser323Gly
ENST00000360105.8:c.967A>G	ENSP00000353219.4:p.Ser323Gly
ENST00000397661.6:c.1081A>G	ENSP00000380781.2:p.Ser361Gly
ENST00000585382.5:c.*450A>G	ENSP00000466605.1:n.*450A>G
ENST00000585575.5:c.1057A>G	ENSP00000468794.1:p.Ser353Gly
ENST00000586797.5:c.*912A>G	ENSP00000467536.1:n.*912A>G
ENST00000587260.1:c.1078A>G	ENSP00000467785.1:p.Ser360Gly
ENST00000587760.5:c.1057A>G	ENSP00000466389.1:p.Ser353Gly
ENST00000588228.5:c.940A>G	ENSP00000466735.1:p.Ser314Gly
ENST00000592199.5:c.1081A>G	ENSP00000467512.1:p.Ser361Gly
NM_001271043.2:c.1105A>G	NP_001257972.1:p.Ser369Gly
NM_001271044.2:c.1057A>G	NP_001257973.1:p.Ser353Gly
NM_002501.3:c.1081A>G	NP_002492.2:p.Ser361Gly
XM_005259917.3:c.1135A>G	XP_005259974.1:p.Ser379Gly
XM_005259918.3:c.1081A>G	XP_005259975.1:p.Ser361Gly
XM_005259919.3:c.1258A>G	XP_005259976.1:p.Ser420Gly
XM_005259920.3:c.1057A>G	XP_005259977.1:p.Ser353Gly
XM_005259921.3:c.1255+2947A>G	XP_005259978.1:n.1255+2947A>G
XM_005259922.3:c.1132+6011A>G	XP_005259979.1:n.1132+6011A>G
XM_006722760.2:c.1135A>G	XP_006722823.1:p.Ser379Gly
XM_011528040.1:c.1129A>G	XP_011526342.1:p.Ser377Gly
NM_001365902.1:c.1081A>G	NP_001352831.1:p.Ser361Gly
NM_001365982.1:c.958A>G	NP_001352911.1:p.Ser320Gly
NM_001365983.1:c.940A>G	NP_001352912.1:p.Ser314Gly
NM_001365984.1:c.1078A>G	NP_001352913.1:p.Ser360Gly
NM_001365985.1:c.1078A>G	NP_001352914.1:p.Ser360Gly
XM_005259917.4:c.1135A>G	XP_005259974.1:p.Ser379Gly
NM_001271044.3:c.1057A>G	NP_001257973.1:p.Ser353Gly
NM_001365902.2:c.1081A>G	NP_001352831.1:p.Ser361Gly
NM_001365982.2:c.958A>G	NP_001352911.1:p.Ser320Gly
NM_001365983.2:c.940A>G	NP_001352912.1:p.Ser314Gly
NM_001365984.2:c.1078A>G	NP_001352913.1:p.Ser360Gly
NM_001365985.2:c.1078A>G	NP_001352914.1:p.Ser360Gly
NM_002501.4:c.1081A>G	NP_002492.2:p.Ser361Gly
NM_001365902.3:c.1081A>G MANE Select	NP_001352831.1:p.Ser361Gly
NM_001378404.1:c.1057A>G	NP_001365333.1:p.Ser353Gly
NM_001378405.1:c.1129A>G	NP_001365334.1:p.Ser377Gly