Canonical Allele Identifier: CA252964
Gene: FXN HGNC NCBI

Linked Data

ClinVar Variation Id: 3981
ClinVar RCV Id: RCV000004188
dbSNP Id: rs104894106
gnomAD v2: 9-71679929-A-T
gnomAD v3: 9-69065013-A-T
gnomAD v4: 9-69065013-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065013A>T , CM000671.2:g.69065013A>T GRCh38
NC_000009.11:g.71679929A>T , CM000671.1:g.71679929A>T GRCh37
NC_000009.10:g.70869749A>T NCBI36
NG_008845.2:g.34451A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.235A>T ENSP00000366482.4:p.Ile79Phe
ENST00000484259.3:c.460A>T MANE Select ENSP00000419243.2:p.Ile154Phe
ENST00000642330.1:c.384+11753A>T ENSP00000493770.1:n.384+11753A>T
ENST00000642889.1:c.165+29066A>T ENSP00000493780.1:n.165+29066A>T
ENST00000643352.1:c.460A>T ENSP00000496488.1:p.Ile154Phe
ENST00000643765.1:c.458A>T
ENST00000644653.1:c.*63A>T ENSP00000495217.1:n.*63A>T
ENST00000644977.1:c.*185A>T ENSP00000495651.1:n.*185A>T
ENST00000645088.1:c.*63A>T ENSP00000495447.1:n.*63A>T
ENST00000646862.1:c.384+11753A>T ENSP00000494599.1:n.384+11753A>T
ENST00000377270.7:c.460A>T ENSP00000366482.3:p.Ile154Phe
ENST00000396364.7:c.460A>T ENSP00000379650.3:p.Ile154Phe
ENST00000396366.6:c.460A>T ENSP00000379652.2:p.Ile154Phe
ENST00000484259.1:c.152A>T
ENST00000498653.5:c.235A>T ENSP00000418015.1:p.Ile79Phe
NM_000144.4:c.460A>T NP_000135.2:p.Ile154Phe
NM_001161706.1:c.460A>T NP_001155178.1:p.Ile154Phe
NM_181425.2:c.460A>T NP_852090.1:p.Ile154Phe
NM_000144.5:c.460A>T MANE Select NP_000135.2:p.Ile154Phe
NM_181425.3:c.460A>T NP_852090.1:p.Ile154Phe