Canonical Allele Identifier: CA373530761

Gene: FXN

Linked Data

• gnomAD v4: 9-69064949-A-C
• MyVariant Identifiers: chr9:g.71679865A>C (hg19) ; chr9:g.69064949A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064949A>C , CM000671.2:g.69064949A>C	GRCh38
NC_000009.11:g.71679865A>C , CM000671.1:g.71679865A>C	GRCh37
NC_000009.10:g.70869685A>C	NCBI36
NG_008845.2:g.34387A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.171A>C	ENSP00000366482.4:p.Leu57Phe
ENST00000484259.3:c.396A>C MANE Select	ENSP00000419243.2:p.Leu132Phe
ENST00000642330.1:c.384+11689A>C	ENSP00000493770.1:n.384+11689A>C
ENST00000642889.1:c.165+29002A>C	ENSP00000493780.1:n.165+29002A>C
ENST00000643352.1:c.396A>C	ENSP00000496488.1:p.Leu132Phe
ENST00000643765.1:c.394A>C
ENST00000644653.1:c.275A>C	ENSP00000495217.1:p.Ter92Ser
ENST00000644977.1:c.*121A>C	ENSP00000495651.1:n.*121A>C
ENST00000645088.1:c.275A>C	ENSP00000495447.1:p.Ter92Ser
ENST00000646862.1:c.384+11689A>C	ENSP00000494599.1:n.384+11689A>C
ENST00000377270.7:c.396A>C	ENSP00000366482.3:p.Leu132Phe
ENST00000396364.7:c.396A>C	ENSP00000379650.3:p.Leu132Phe
ENST00000396366.6:c.396A>C	ENSP00000379652.2:p.Leu132Phe
ENST00000484259.1:c.88A>C
ENST00000498653.5:c.171A>C	ENSP00000418015.1:p.Leu57Phe
NM_000144.4:c.396A>C	NP_000135.2:p.Leu132Phe
NM_001161706.1:c.396A>C	NP_001155178.1:p.Leu132Phe
NM_181425.2:c.396A>C	NP_852090.1:p.Leu132Phe
NM_000144.5:c.396A>C MANE Select	NP_000135.2:p.Leu132Phe
NM_181425.3:c.396A>C	NP_852090.1:p.Leu132Phe