Canonical Allele Identifier: CA193982467
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs139616452
gnomAD v4: 9-69072673-C-T
MyVariant Identifiers: chr9:g.71687589C>T (hg19) chr9:g.69072673C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69072673C>T , CM000671.2:g.69072673C>T GRCh38
NC_000009.11:g.71687589C>T , CM000671.1:g.71687589C>T GRCh37
NC_000009.10:g.70877409C>T NCBI36
NG_008845.2:g.42111C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.319C>T ENSP00000366482.4:p.Leu107Phe
ENST00000484259.3:c.544C>T MANE Select ENSP00000419243.2:p.Leu182Phe
ENST00000642330.1:c.384+19413C>T ENSP00000493770.1:n.384+19413C>T
ENST00000642889.1:c.166-27228C>T ENSP00000493780.1:n.166-27228C>T
ENST00000643352.1:c.482+7638C>T ENSP00000496488.1:n.482+7638C>T
ENST00000643765.1:c.480+7638C>T
ENST00000644653.1:c.*147C>T ENSP00000495217.1:n.*147C>T
ENST00000644977.1:c.*207+7638C>T ENSP00000495651.1:n.*207+7638C>T
ENST00000645088.1:c.*85+7638C>T ENSP00000495447.1:n.*85+7638C>T
ENST00000646862.1:c.384+19413C>T ENSP00000494599.1:n.384+19413C>T
ENST00000377270.7:c.544C>T ENSP00000366482.3:p.Leu182Phe
ENST00000396364.7:c.482+7638C>T ENSP00000379650.3:n.482+7638C>T
ENST00000396366.6:c.552C>T ENSP00000379652.2:p.Pro184=
ENST00000484259.1:c.236C>T
ENST00000498653.5:c.319C>T ENSP00000418015.1:p.Leu107Phe
NM_000144.4:c.544C>T NP_000135.2:p.Leu182Phe
NM_001161706.1:c.482+7638C>T NP_001155178.1:n.482+7638C>T
NM_181425.2:c.552C>T NP_852090.1:p.Pro184=
NM_000144.5:c.544C>T MANE Select NP_000135.2:p.Leu182Phe
NM_181425.3:c.552C>T NP_852090.1:p.Pro184=
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