Canonical Allele Identifier: CA1125098289

Gene: FXN

Linked Data

• dbSNP Id: rs1832294460
• gnomAD v3: 9-69072590-A-G
• gnomAD v4: 9-69072590-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072590A>G , CM000671.2:g.69072590A>G	GRCh38
NC_000009.11:g.71687506A>G , CM000671.1:g.71687506A>G	GRCh37
NC_000009.10:g.70877326A>G	NCBI36
NG_008845.2:g.42028A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.258-22A>G	ENSP00000366482.4:n.258-22A>G
ENST00000484259.3:c.483-22A>G MANE Select	ENSP00000419243.2:n.483-22A>G
ENST00000642330.1:c.384+19330A>G	ENSP00000493770.1:n.384+19330A>G
ENST00000642889.1:c.166-27311A>G	ENSP00000493780.1:n.166-27311A>G
ENST00000643352.1:c.482+7555A>G	ENSP00000496488.1:n.482+7555A>G
ENST00000643765.1:c.480+7555A>G
ENST00000644653.1:c.*86-22A>G	ENSP00000495217.1:n.*86-22A>G
ENST00000644977.1:c.*207+7555A>G	ENSP00000495651.1:n.*207+7555A>G
ENST00000645088.1:c.*85+7555A>G	ENSP00000495447.1:n.*85+7555A>G
ENST00000646862.1:c.384+19330A>G	ENSP00000494599.1:n.384+19330A>G
ENST00000377270.7:c.483-22A>G	ENSP00000366482.3:n.483-22A>G
ENST00000396364.7:c.482+7555A>G	ENSP00000379650.3:n.482+7555A>G
ENST00000396366.6:c.491-22A>G	ENSP00000379652.2:n.491-22A>G
ENST00000484259.1:c.175-22A>G
ENST00000498653.5:c.258-22A>G	ENSP00000418015.1:n.258-22A>G
NM_000144.4:c.483-22A>G	NP_000135.2:n.483-22A>G
NM_001161706.1:c.482+7555A>G	NP_001155178.1:n.482+7555A>G
NM_181425.2:c.491-22A>G	NP_852090.1:n.491-22A>G
NM_000144.5:c.483-22A>G MANE Select	NP_000135.2:n.483-22A>G
NM_181425.3:c.491-22A>G	NP_852090.1:n.491-22A>G