Canonical Allele Identifier: CA193393066
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs140472905
MyVariant Identifiers: chr9:g.71679912A>G (hg19) chr9:g.69064996A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064996A>G , CM000671.2:g.69064996A>G GRCh38
NC_000009.11:g.71679912A>G , CM000671.1:g.71679912A>G GRCh37
NC_000009.10:g.70869732A>G NCBI36
NG_008845.2:g.34434A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.218A>G ENSP00000366482.4:p.Gln73Arg
ENST00000484259.3:c.443A>G MANE Select ENSP00000419243.2:p.Gln148Arg
ENST00000642330.1:c.384+11736A>G ENSP00000493770.1:n.384+11736A>G
ENST00000642889.1:c.165+29049A>G ENSP00000493780.1:n.165+29049A>G
ENST00000643352.1:c.443A>G ENSP00000496488.1:p.Gln148Arg
ENST00000643765.1:c.441A>G
ENST00000644653.1:c.*46A>G ENSP00000495217.1:n.*46A>G
ENST00000644977.1:c.*168A>G ENSP00000495651.1:n.*168A>G
ENST00000645088.1:c.*46A>G ENSP00000495447.1:n.*46A>G
ENST00000646862.1:c.384+11736A>G ENSP00000494599.1:n.384+11736A>G
ENST00000377270.7:c.443A>G ENSP00000366482.3:p.Gln148Arg
ENST00000396364.7:c.443A>G ENSP00000379650.3:p.Gln148Arg
ENST00000396366.6:c.443A>G ENSP00000379652.2:p.Gln148Arg
ENST00000484259.1:c.135A>G
ENST00000498653.5:c.218A>G ENSP00000418015.1:p.Gln73Arg
NM_000144.4:c.443A>G NP_000135.2:p.Gln148Arg
NM_001161706.1:c.443A>G NP_001155178.1:p.Gln148Arg
NM_181425.2:c.443A>G NP_852090.1:p.Gln148Arg
NM_000144.5:c.443A>G MANE Select NP_000135.2:p.Gln148Arg
NM_181425.3:c.443A>G NP_852090.1:p.Gln148Arg
Search 100 bp 5'
Search 100 bp 3'