Canonical Allele Identifier: CA252964
Gene: FXN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3981
ClinVar RCV Id: RCV000004188
dbSNP Id: rs104894106

User contributed link-outs

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
NM_000144.4:c.460A>T VV NP_000135.2:p.Ile154Phe
NM_001161706.1:c.460A>T VV NP_001155178.1:p.Ile154Phe
NM_181425.2:c.460A>T VV NP_852090.1:p.Ile154Phe
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:n.152A>T
ENST00000498653.5:c.235A>T ENSP00000418015.1:p.Ile79Phe