Canonical Allele Identifier: CA16617174
Gene: NFIA HGNC NCBI

Linked Data

ClinVar Variation Id: 420999
dbSNP Id: rs1064794841

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.61088191C>T , CM000663.2:g.61088191C>T GRCh38
NC_000001.10:g.61553863C>T , CM000663.1:g.61553863C>T GRCh37
NC_000001.9:g.61326451C>T NCBI36
NG_011787.1:g.15918C>T
NG_011787.2:g.15918C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000482020.2:c.70C>T ENSP00000474806.2:p.Arg24Ter
ENST00000699964.1:c.46C>T ENSP00000514720.1:p.Arg16Ter
ENST00000699965.1:c.70C>T ENSP00000514721.1:p.Arg24Ter
ENST00000699966.1:c.70C>T ENSP00000514722.1:p.Arg24Ter
ENST00000699967.1:c.70C>T ENSP00000514723.1:p.Arg24Ter
ENST00000699986.1:c.70C>T ENSP00000514739.1:p.Arg24Ter
ENST00000699987.1:c.70C>T ENSP00000514740.1:p.Arg24Ter
ENST00000699993.1:c.70C>T ENSP00000514743.1:p.Arg24Ter
ENST00000403491.8:c.70C>T MANE Select ENSP00000384523.3:p.Arg24Ter
ENST00000603233.2:n.43C>T
ENST00000662015.1:c.70C>T ENSP00000499312.1:p.Arg24Ter
ENST00000664149.1:c.70C>T ENSP00000499651.1:p.Arg24Ter
ENST00000664495.1:c.*162C>T ENSP00000499306.1:n.*162C>T
ENST00000670151.1:c.70C>T ENSP00000499729.1:p.Arg24Ter
ENST00000371184.6:c.70C>T ENSP00000360226.1:p.Arg24Ter
ENST00000371185.6:c.70C>T ENSP00000360227.1:p.Arg24Ter
ENST00000371187.7:c.70C>T ENSP00000360229.3:p.Arg24Ter
ENST00000371189.8:c.205C>T ENSP00000360231.3:p.Arg69Ter
ENST00000371191.5:c.139C>T ENSP00000360233.1:p.Arg47Ter
ENST00000403491.7:c.70C>T ENSP00000384523.3:p.Arg24Ter
ENST00000407417.7:c.46C>T ENSP00000384680.2:p.Arg16Ter
ENST00000476646.5:c.-72C>T ENSP00000474461.1:n.-72C>T
ENST00000479364.1:n.149+6276C>T
ENST00000485903.6:c.70C>T ENSP00000419785.2:p.Arg24Ter
NM_001134673.3:c.70C>T NP_001128145.1:p.Arg24Ter
NM_001145511.1:c.46C>T NP_001138983.1:p.Arg16Ter
NM_001145512.1:c.205C>T NP_001138984.1:p.Arg69Ter
NM_005595.4:c.70C>T NP_005586.1:p.Arg24Ter
XM_011541512.1:c.70C>T XP_011539814.1:p.Arg24Ter
XM_011541513.1:c.70C>T XP_011539815.1:p.Arg24Ter
XM_011541514.1:c.46C>T XP_011539816.1:p.Arg16Ter
XM_011541515.1:c.70C>T XP_011539817.1:p.Arg24Ter
XM_011541512.3:c.70C>T XP_011539814.1:p.Arg24Ter
XM_011541514.3:c.46C>T XP_011539816.1:p.Arg16Ter
XM_011541515.3:c.70C>T XP_011539817.1:p.Arg24Ter
XM_017001362.2:c.46C>T XP_016856851.1:p.Arg16Ter
NM_001134673.4:c.70C>T MANE Select NP_001128145.1:p.Arg24Ter
NM_001145511.2:c.46C>T NP_001138983.1:p.Arg16Ter
NM_001145512.2:c.205C>T NP_001138984.1:p.Arg69Ter
NM_005595.5:c.70C>T NP_005586.1:p.Arg24Ter