Canonical Allele Identifier: CA465233610
Gene: FXN HGNC NCBI

Linked Data

gnomAD v4: 9-69065015-C-T
MyVariant Identifiers: chr9:g.71679931C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065015C>T , CM000671.2:g.69065015C>T GRCh38
NC_000009.11:g.71679931C>T , CM000671.1:g.71679931C>T GRCh37
NC_000009.10:g.70869751C>T NCBI36
NG_008845.2:g.34453C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.237C>T ENSP00000366482.4:p.Ile79=
ENST00000484259.3:c.462C>T MANE Select ENSP00000419243.2:p.Ile154=
ENST00000642330.1:c.384+11755C>T ENSP00000493770.1:n.384+11755C>T
ENST00000642889.1:c.165+29068C>T ENSP00000493780.1:n.165+29068C>T
ENST00000643352.1:c.462C>T ENSP00000496488.1:p.Ile154=
ENST00000643765.1:c.460C>T
ENST00000644653.1:c.*65C>T ENSP00000495217.1:n.*65C>T
ENST00000644977.1:c.*187C>T ENSP00000495651.1:n.*187C>T
ENST00000645088.1:c.*65C>T ENSP00000495447.1:n.*65C>T
ENST00000646862.1:c.384+11755C>T ENSP00000494599.1:n.384+11755C>T
ENST00000377270.7:c.462C>T ENSP00000366482.3:p.Ile154=
ENST00000396364.7:c.462C>T ENSP00000379650.3:p.Ile154=
ENST00000396366.6:c.462C>T ENSP00000379652.2:p.Ile154=
ENST00000484259.1:c.154C>T
ENST00000498653.5:c.237C>T ENSP00000418015.1:p.Ile79=
NM_000144.4:c.462C>T NP_000135.2:p.Ile154=
NM_001161706.1:c.462C>T NP_001155178.1:p.Ile154=
NM_181425.2:c.462C>T NP_852090.1:p.Ile154=
NM_000144.5:c.462C>T MANE Select NP_000135.2:p.Ile154=
NM_181425.3:c.462C>T NP_852090.1:p.Ile154=