Canonical Allele Identifier: CA373623640

Gene: FXN

Linked Data

• dbSNP Id: rs1228124556
• gnomAD v3: 9-69072676-C-T
• gnomAD v4: 9-69072676-C-T
• MyVariant Identifiers: chr9:g.71687592C>T (hg19) ; chr9:g.69072676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072676C>T , CM000671.2:g.69072676C>T	GRCh38
NC_000009.11:g.71687592C>T , CM000671.1:g.71687592C>T	GRCh37
NC_000009.10:g.70877412C>T	NCBI36
NG_008845.2:g.42114C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.322C>T	ENSP00000366482.4:p.His108Tyr
ENST00000484259.3:c.547C>T MANE Select	ENSP00000419243.2:p.His183Tyr
ENST00000642330.1:c.384+19416C>T	ENSP00000493770.1:n.384+19416C>T
ENST00000642889.1:c.166-27225C>T	ENSP00000493780.1:n.166-27225C>T
ENST00000643352.1:c.482+7641C>T	ENSP00000496488.1:n.482+7641C>T
ENST00000643765.1:c.480+7641C>T
ENST00000644653.1:c.*150C>T	ENSP00000495217.1:n.*150C>T
ENST00000644977.1:c.*207+7641C>T	ENSP00000495651.1:n.*207+7641C>T
ENST00000645088.1:c.*85+7641C>T	ENSP00000495447.1:n.*85+7641C>T
ENST00000646862.1:c.384+19416C>T	ENSP00000494599.1:n.384+19416C>T
ENST00000377270.7:c.547C>T	ENSP00000366482.3:p.His183Tyr
ENST00000396364.7:c.482+7641C>T	ENSP00000379650.3:n.482+7641C>T
ENST00000396366.6:c.555C>T	ENSP00000379652.2:p.Ser185=
ENST00000484259.1:c.239C>T
ENST00000498653.5:c.322C>T	ENSP00000418015.1:p.His108Tyr
NM_000144.4:c.547C>T	NP_000135.2:p.His183Tyr
NM_001161706.1:c.482+7641C>T	NP_001155178.1:n.482+7641C>T
NM_181425.2:c.555C>T	NP_852090.1:p.Ser185=
NM_000144.5:c.547C>T MANE Select	NP_000135.2:p.His183Tyr
NM_181425.3:c.555C>T	NP_852090.1:p.Ser185=