Canonical Allele Identifier: CA16043079
Gene: NFIX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373027
ClinVar RCV Id: RCV000413514
dbSNP Id: rs1057518152

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13025553G>A , CM000681.2:g.13025553G>A GRCh38
NC_000019.9:g.13136367G>A , CM000681.1:g.13136367G>A GRCh37
NC_000019.8:g.12997367G>A NCBI36
NG_032925.2:g.34784G>A

Transcript Alleles

HGVS Amino-acid change
NM_001271043.2:c.583+1G>A VV NP_001257972.1:p.=
NM_001271044.2:c.535+1G>A VV NP_001257973.1:p.=
NM_002501.3:c.559+1G>A VV NP_002492.2:p.=
XM_005259917.3:c.736+1G>A XP_005259974.1:p.=
XM_005259918.3:c.559+1G>A XP_005259975.1:p.=
XM_005259919.3:c.736+1G>A XP_005259976.1:p.=
XM_005259920.3:c.535+1G>A XP_005259977.1:p.=
XM_005259921.3:c.736+1G>A XP_005259978.1:p.=
XM_005259922.3:c.736+1G>A XP_005259979.1:p.=
XM_006722760.2:c.736+1G>A XP_006722823.1:p.=
XM_011528040.1:c.607+1G>A XP_011526342.1:p.=
NM_001365902.1:c.559+1G>A VV NP_001352831.1:p.=
NM_001365982.1:c.559+1G>A VV NP_001352911.1:p.=
NM_001365983.1:c.418+1G>A VV NP_001352912.1:p.=
NM_001365984.1:c.556+1G>A VV NP_001352913.1:p.=
NM_001365985.1:c.556+1G>A VV NP_001352914.1:p.=
XM_005259917.4:c.736+1G>A XP_005259974.1:p.=
ENST00000358552.7:c.568+1G>A ENSP00000351354.4:p.=
ENST00000360105.8:c.568+1G>A ENSP00000353219.4:p.=
ENST00000397661.6:c.559+1G>A ENSP00000380781.2:p.=
ENST00000585382.5:c.234+185G>A ENSP00000466605.1:p.=
ENST00000585575.5:n.535+1G>A ENSP00000468794.1:p.=
ENST00000586797.5:c.*390+1G>A ENSP00000467536.1:p.=
ENST00000587260.1:c.556+1G>A ENSP00000467785.1:p.=
ENST00000587760.5:c.535+1G>A ENSP00000466389.1:p.=
ENST00000588228.5:c.418+1G>A ENSP00000466735.1:p.=
ENST00000592199.5:n.559+1G>A ENSP00000467512.1:p.=