Canonical Allele Identifier: CA588325755

Gene: FXN

Linked Data

• dbSNP Id: rs1422700440
• gnomAD v2: 9-71687503-A-G
• gnomAD v3: 9-69072587-A-G
• gnomAD v4: 9-69072587-A-G
• MyVariant Identifiers: chr9:g.71687503A>G (hg19) ; chr9:g.69072587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072587A>G , CM000671.2:g.69072587A>G	GRCh38
NC_000009.11:g.71687503A>G , CM000671.1:g.71687503A>G	GRCh37
NC_000009.10:g.70877323A>G	NCBI36
NG_008845.2:g.42025A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.258-25A>G	ENSP00000366482.4:n.258-25A>G
ENST00000484259.3:c.483-25A>G MANE Select	ENSP00000419243.2:n.483-25A>G
ENST00000642330.1:c.384+19327A>G	ENSP00000493770.1:n.384+19327A>G
ENST00000642889.1:c.166-27314A>G	ENSP00000493780.1:n.166-27314A>G
ENST00000643352.1:c.482+7552A>G	ENSP00000496488.1:n.482+7552A>G
ENST00000643765.1:c.480+7552A>G
ENST00000644653.1:c.*86-25A>G	ENSP00000495217.1:n.*86-25A>G
ENST00000644977.1:c.*207+7552A>G	ENSP00000495651.1:n.*207+7552A>G
ENST00000645088.1:c.*85+7552A>G	ENSP00000495447.1:n.*85+7552A>G
ENST00000646862.1:c.384+19327A>G	ENSP00000494599.1:n.384+19327A>G
ENST00000377270.7:c.483-25A>G	ENSP00000366482.3:n.483-25A>G
ENST00000396364.7:c.482+7552A>G	ENSP00000379650.3:n.482+7552A>G
ENST00000396366.6:c.491-25A>G	ENSP00000379652.2:n.491-25A>G
ENST00000484259.1:c.175-25A>G
ENST00000498653.5:c.258-25A>G	ENSP00000418015.1:n.258-25A>G
NM_000144.4:c.483-25A>G	NP_000135.2:n.483-25A>G
NM_001161706.1:c.482+7552A>G	NP_001155178.1:n.482+7552A>G
NM_181425.2:c.491-25A>G	NP_852090.1:n.491-25A>G
NM_000144.5:c.483-25A>G MANE Select	NP_000135.2:n.483-25A>G
NM_181425.3:c.491-25A>G	NP_852090.1:n.491-25A>G