Canonical Allele Identifier: CA1854065008
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs764728893
gnomAD v4: 9-69072594-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69072594A>G , CM000671.2:g.69072594A>G GRCh38
NC_000009.11:g.71687510A>G , CM000671.1:g.71687510A>G GRCh37
NC_000009.10:g.70877330A>G NCBI36
NG_008845.2:g.42032A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.258-18A>G ENSP00000366482.4:n.258-18A>G
ENST00000484259.3:c.483-18A>G MANE Select ENSP00000419243.2:n.483-18A>G
ENST00000642330.1:c.384+19334A>G ENSP00000493770.1:n.384+19334A>G
ENST00000642889.1:c.166-27307A>G ENSP00000493780.1:n.166-27307A>G
ENST00000643352.1:c.482+7559A>G ENSP00000496488.1:n.482+7559A>G
ENST00000643765.1:c.480+7559A>G
ENST00000644653.1:c.*86-18A>G ENSP00000495217.1:n.*86-18A>G
ENST00000644977.1:c.*207+7559A>G ENSP00000495651.1:n.*207+7559A>G
ENST00000645088.1:c.*85+7559A>G ENSP00000495447.1:n.*85+7559A>G
ENST00000646862.1:c.384+19334A>G ENSP00000494599.1:n.384+19334A>G
ENST00000377270.7:c.483-18A>G ENSP00000366482.3:n.483-18A>G
ENST00000396364.7:c.482+7559A>G ENSP00000379650.3:n.482+7559A>G
ENST00000396366.6:c.491-18A>G ENSP00000379652.2:n.491-18A>G
ENST00000484259.1:c.175-18A>G
ENST00000498653.5:c.258-18A>G ENSP00000418015.1:n.258-18A>G
NM_000144.4:c.483-18A>G NP_000135.2:n.483-18A>G
NM_001161706.1:c.482+7559A>G NP_001155178.1:n.482+7559A>G
NM_181425.2:c.491-18A>G NP_852090.1:n.491-18A>G
NM_000144.5:c.483-18A>G MANE Select NP_000135.2:n.483-18A>G
NM_181425.3:c.491-18A>G NP_852090.1:n.491-18A>G