Canonical Allele Identifier: CA16617175
Gene: NFIA HGNC NCBI

Linked Data

ClinVar Variation Id: 423556
ClinVar RCV Id: RCV000484251
dbSNP Id: rs1064796492
MyVariant Identifiers: chr1:g.61554101G>C (hg19) chr1:g.61088429G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.61088429G>C , CM000663.2:g.61088429G>C GRCh38
NC_000001.10:g.61554101G>C , CM000663.1:g.61554101G>C GRCh37
NC_000001.9:g.61326689G>C NCBI36
NG_011787.1:g.16156G>C
NG_011787.2:g.16156G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000482020.2:c.308G>C ENSP00000474806.2:p.Cys103Ser
ENST00000699964.1:c.284G>C ENSP00000514720.1:p.Cys95Ser
ENST00000699965.1:c.308G>C ENSP00000514721.1:p.Cys103Ser
ENST00000699966.1:c.308G>C ENSP00000514722.1:p.Cys103Ser
ENST00000699967.1:c.308G>C ENSP00000514723.1:p.Cys103Ser
ENST00000699986.1:c.308G>C ENSP00000514739.1:p.Cys103Ser
ENST00000699987.1:c.308G>C ENSP00000514740.1:p.Cys103Ser
ENST00000699993.1:c.308G>C ENSP00000514743.1:p.Cys103Ser
ENST00000403491.8:c.308G>C MANE Select ENSP00000384523.3:p.Cys103Ser
ENST00000603233.2:n.281G>C
ENST00000662015.1:c.308G>C ENSP00000499312.1:p.Cys103Ser
ENST00000664149.1:c.308G>C ENSP00000499651.1:p.Cys103Ser
ENST00000664495.1:c.*400G>C ENSP00000499306.1:n.*400G>C
ENST00000670151.1:c.308G>C ENSP00000499729.1:p.Cys103Ser
ENST00000371184.6:c.308G>C ENSP00000360226.1:p.Cys103Ser
ENST00000371185.6:c.308G>C ENSP00000360227.1:p.Cys103Ser
ENST00000371187.7:c.308G>C ENSP00000360229.3:p.Cys103Ser
ENST00000371189.8:c.443G>C ENSP00000360231.3:p.Cys148Ser
ENST00000371191.5:c.377G>C ENSP00000360233.1:p.Cys126Ser
ENST00000403491.7:c.308G>C ENSP00000384523.3:p.Cys103Ser
ENST00000407417.7:c.284G>C ENSP00000384680.2:p.Cys95Ser
ENST00000476646.5:c.167G>C ENSP00000474461.1:p.Cys56Ser
ENST00000479364.1:n.149+6514G>C
ENST00000485903.6:c.308G>C ENSP00000419785.2:p.Cys103Ser
ENST00000496712.1:c.18G>C
NM_001134673.3:c.308G>C NP_001128145.1:p.Cys103Ser
NM_001145511.1:c.284G>C NP_001138983.1:p.Cys95Ser
NM_001145512.1:c.443G>C NP_001138984.1:p.Cys148Ser
NM_005595.4:c.308G>C NP_005586.1:p.Cys103Ser
XM_011541512.1:c.308G>C XP_011539814.1:p.Cys103Ser
XM_011541513.1:c.308G>C XP_011539815.1:p.Cys103Ser
XM_011541514.1:c.284G>C XP_011539816.1:p.Cys95Ser
XM_011541515.1:c.308G>C XP_011539817.1:p.Cys103Ser
XM_011541512.3:c.308G>C XP_011539814.1:p.Cys103Ser
XM_011541514.3:c.284G>C XP_011539816.1:p.Cys95Ser
XM_011541515.3:c.308G>C XP_011539817.1:p.Cys103Ser
XM_017001362.2:c.284G>C XP_016856851.1:p.Cys95Ser
NM_001134673.4:c.308G>C MANE Select NP_001128145.1:p.Cys103Ser
NM_001145511.2:c.284G>C NP_001138983.1:p.Cys95Ser
NM_001145512.2:c.443G>C NP_001138984.1:p.Cys148Ser
NM_005595.5:c.308G>C NP_005586.1:p.Cys103Ser
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