Canonical Allele Identifier: CA193982472
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs144104124
gnomAD v4: 9-69072722-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69072722T>G , CM000671.2:g.69072722T>G GRCh38
NC_000009.11:g.71687638T>G , CM000671.1:g.71687638T>G GRCh37
NC_000009.10:g.70877458T>G NCBI36
NG_008845.2:g.42160T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.368T>G ENSP00000366482.4:p.Leu123Arg
ENST00000484259.3:c.593T>G MANE Select ENSP00000419243.2:p.Leu198Arg
ENST00000642330.1:c.384+19462T>G ENSP00000493770.1:n.384+19462T>G
ENST00000642889.1:c.166-27179T>G ENSP00000493780.1:n.166-27179T>G
ENST00000643352.1:c.482+7687T>G ENSP00000496488.1:n.482+7687T>G
ENST00000643765.1:c.480+7687T>G
ENST00000644653.1:c.*196T>G ENSP00000495217.1:n.*196T>G
ENST00000644977.1:c.*207+7687T>G ENSP00000495651.1:n.*207+7687T>G
ENST00000645088.1:c.*85+7687T>G ENSP00000495447.1:n.*85+7687T>G
ENST00000646862.1:c.384+19462T>G ENSP00000494599.1:n.384+19462T>G
ENST00000377270.7:c.593T>G ENSP00000366482.3:p.Leu198Arg
ENST00000396364.7:c.482+7687T>G ENSP00000379650.3:n.482+7687T>G
ENST00000396366.6:c.*10T>G ENSP00000379652.2:n.*10T>G
ENST00000484259.1:c.285T>G
ENST00000498653.5:c.368T>G ENSP00000418015.1:p.Leu123Arg
NM_000144.4:c.593T>G NP_000135.2:p.Leu198Arg
NM_001161706.1:c.482+7687T>G NP_001155178.1:n.482+7687T>G
NM_181425.2:c.*10T>G NP_852090.1:n.*10T>G
NM_000144.5:c.593T>G MANE Select NP_000135.2:p.Leu198Arg
NM_181425.3:c.*10T>G NP_852090.1:n.*10T>G