Canonical Allele Identifier: CA373527661

Gene: FXN

Linked Data

• dbSNP Id: rs1486151799
• gnomAD v2: 9-71650825-C-T
• gnomAD v4: 9-69035909-C-T
• MyVariant Identifiers: chr9:g.71650825C>T (hg19) ; chr9:g.69035909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035909C>T , CM000671.2:g.69035909C>T	GRCh38
NC_000009.11:g.71650825C>T , CM000671.1:g.71650825C>T	GRCh37
NC_000009.10:g.70840645C>T	NCBI36
NG_008845.2:g.5347C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000484259.3:c.127C>T MANE Select	ENSP00000419243.2:p.Arg43Cys
ENST00000642330.1:c.127C>T	ENSP00000493770.1:p.Arg43Cys
ENST00000642889.1:c.127C>T	ENSP00000493780.1:p.Arg43Cys
ENST00000643352.1:c.127C>T	ENSP00000496488.1:p.Arg43Cys
ENST00000643765.1:c.125C>T
ENST00000644653.1:c.127C>T	ENSP00000495217.1:p.Arg43Cys
ENST00000644977.1:c.127C>T	ENSP00000495651.1:p.Arg43Cys
ENST00000645088.1:c.127C>T	ENSP00000495447.1:p.Arg43Cys
ENST00000646862.1:c.127C>T	ENSP00000494599.1:p.Arg43Cys
ENST00000377270.7:c.127C>T	ENSP00000366482.3:p.Arg43Cys
ENST00000396364.7:c.127C>T	ENSP00000379650.3:p.Arg43Cys
ENST00000396366.6:c.127C>T	ENSP00000379652.2:p.Arg43Cys
NM_000144.4:c.127C>T	NP_000135.2:p.Arg43Cys
NM_001161706.1:c.127C>T	NP_001155178.1:p.Arg43Cys
NM_181425.2:c.127C>T	NP_852090.1:p.Arg43Cys
NM_000144.5:c.127C>T MANE Select	NP_000135.2:p.Arg43Cys
NM_181425.3:c.127C>T	NP_852090.1:p.Arg43Cys