Canonical Allele Identifier: CA5072647

Gene: FXN

Linked Data

• dbSNP Id: rs565294240
• ExAC: 9:71650836 C / T
• gnomAD v2: 9-71650836-C-T
• gnomAD v3: 9-69035920-C-T
• gnomAD v4: 9-69035920-C-T
• MyVariant Identifiers: chr9:g.71650836C>T (hg19) ; chr9:g.69035920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035920C>T , CM000671.2:g.69035920C>T	GRCh38
NC_000009.11:g.71650836C>T , CM000671.1:g.71650836C>T	GRCh37
NC_000009.10:g.70840656C>T	NCBI36
NG_008845.2:g.5358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.138C>T MANE Select	ENSP00000419243.2:p.Ile46=
ENST00000642330.1:c.138C>T	ENSP00000493770.1:p.Ile46=
ENST00000642889.1:c.138C>T	ENSP00000493780.1:p.Ile46=
ENST00000643352.1:c.138C>T	ENSP00000496488.1:p.Ile46=
ENST00000643765.1:c.136C>T
ENST00000644653.1:c.138C>T	ENSP00000495217.1:p.Ile46=
ENST00000644977.1:c.138C>T	ENSP00000495651.1:p.Ile46=
ENST00000645088.1:c.138C>T	ENSP00000495447.1:p.Ile46=
ENST00000646862.1:c.138C>T	ENSP00000494599.1:p.Ile46=
ENST00000377270.7:c.138C>T	ENSP00000366482.3:p.Ile46=
ENST00000396364.7:c.138C>T	ENSP00000379650.3:p.Ile46=
ENST00000396366.6:c.138C>T	ENSP00000379652.2:p.Ile46=
NM_000144.4:c.138C>T	NP_000135.2:p.Ile46=
NM_001161706.1:c.138C>T	NP_001155178.1:p.Ile46=
NM_181425.2:c.138C>T	NP_852090.1:p.Ile46=
NM_000144.5:c.138C>T MANE Select	NP_000135.2:p.Ile46=
NM_181425.3:c.138C>T	NP_852090.1:p.Ile46=