Canonical Allele Identifier: CA1854052141

Gene: FXN

Linked Data

• dbSNP Id: rs1832145448
• gnomAD v4: 9-69065114-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065114A>G , CM000671.2:g.69065114A>G	GRCh38
NC_000009.11:g.71680030A>G , CM000671.1:g.71680030A>G	GRCh37
NC_000009.10:g.70869850A>G	NCBI36
NG_008845.2:g.34552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.257+79A>G	ENSP00000366482.4:n.257+79A>G
ENST00000484259.3:c.482+79A>G MANE Select	ENSP00000419243.2:n.482+79A>G
ENST00000642330.1:c.384+11854A>G	ENSP00000493770.1:n.384+11854A>G
ENST00000642889.1:c.165+29167A>G	ENSP00000493780.1:n.165+29167A>G
ENST00000643352.1:c.482+79A>G	ENSP00000496488.1:n.482+79A>G
ENST00000643765.1:c.480+79A>G
ENST00000644653.1:c.*85+79A>G	ENSP00000495217.1:n.*85+79A>G
ENST00000644977.1:c.*207+79A>G	ENSP00000495651.1:n.*207+79A>G
ENST00000645088.1:c.*85+79A>G	ENSP00000495447.1:n.*85+79A>G
ENST00000646862.1:c.384+11854A>G	ENSP00000494599.1:n.384+11854A>G
ENST00000377270.7:c.482+79A>G	ENSP00000366482.3:n.482+79A>G
ENST00000396364.7:c.482+79A>G	ENSP00000379650.3:n.482+79A>G
ENST00000396366.6:c.490+71A>G	ENSP00000379652.2:n.490+71A>G
ENST00000484259.1:c.174+79A>G
ENST00000498653.5:c.257+79A>G	ENSP00000418015.1:n.257+79A>G
NM_000144.4:c.482+79A>G	NP_000135.2:n.482+79A>G
NM_001161706.1:c.482+79A>G	NP_001155178.1:n.482+79A>G
NM_181425.2:c.490+71A>G	NP_852090.1:n.490+71A>G
NM_000144.5:c.482+79A>G MANE Select	NP_000135.2:n.482+79A>G
NM_181425.3:c.490+71A>G	NP_852090.1:n.490+71A>G