Canonical Allele Identifier: CA1125098294

Gene: FXN

Linked Data

• dbSNP Id: rs1832294705
• gnomAD v3: 9-69072607-T-C
• gnomAD v4: 9-69072607-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072607T>C , CM000671.2:g.69072607T>C	GRCh38
NC_000009.11:g.71687523T>C , CM000671.1:g.71687523T>C	GRCh37
NC_000009.10:g.70877343T>C	NCBI36
NG_008845.2:g.42045T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.258-5T>C	ENSP00000366482.4:n.258-5T>C
ENST00000484259.3:c.483-5T>C MANE Select	ENSP00000419243.2:n.483-5T>C
ENST00000642330.1:c.384+19347T>C	ENSP00000493770.1:n.384+19347T>C
ENST00000642889.1:c.166-27294T>C	ENSP00000493780.1:n.166-27294T>C
ENST00000643352.1:c.482+7572T>C	ENSP00000496488.1:n.482+7572T>C
ENST00000643765.1:c.480+7572T>C
ENST00000644653.1:c.*86-5T>C	ENSP00000495217.1:n.*86-5T>C
ENST00000644977.1:c.*207+7572T>C	ENSP00000495651.1:n.*207+7572T>C
ENST00000645088.1:c.*85+7572T>C	ENSP00000495447.1:n.*85+7572T>C
ENST00000646862.1:c.384+19347T>C	ENSP00000494599.1:n.384+19347T>C
ENST00000377270.7:c.483-5T>C	ENSP00000366482.3:n.483-5T>C
ENST00000396364.7:c.482+7572T>C	ENSP00000379650.3:n.482+7572T>C
ENST00000396366.6:c.491-5T>C	ENSP00000379652.2:n.491-5T>C
ENST00000484259.1:c.175-5T>C
ENST00000498653.5:c.258-5T>C	ENSP00000418015.1:n.258-5T>C
NM_000144.4:c.483-5T>C	NP_000135.2:n.483-5T>C
NM_001161706.1:c.482+7572T>C	NP_001155178.1:n.482+7572T>C
NM_181425.2:c.491-5T>C	NP_852090.1:n.491-5T>C
NM_000144.5:c.483-5T>C MANE Select	NP_000135.2:n.483-5T>C
NM_181425.3:c.491-5T>C	NP_852090.1:n.491-5T>C