Canonical Allele Identifier: CA465233171

Gene: FXN

Linked Data

• ClinVar Variation Id: 518531
• ClinVar RCV Id: RCV002311260
• dbSNP Id: rs767135118
• gnomAD v4: 9-69035879-T-C
• MyVariant Identifiers: chr9:g.71650795T>C (hg19) ; chr9:g.69035879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035879T>C , CM000671.2:g.69035879T>C	GRCh38
NC_000009.11:g.71650795T>C , CM000671.1:g.71650795T>C	GRCh37
NC_000009.10:g.70840615T>C	NCBI36
NG_008845.2:g.5317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.97T>C MANE Select	ENSP00000419243.2:p.Leu33=
ENST00000642330.1:c.97T>C	ENSP00000493770.1:p.Leu33=
ENST00000642889.1:c.97T>C	ENSP00000493780.1:p.Leu33=
ENST00000643352.1:c.97T>C	ENSP00000496488.1:p.Leu33=
ENST00000643765.1:c.95T>C
ENST00000644653.1:c.97T>C	ENSP00000495217.1:p.Leu33=
ENST00000644977.1:c.97T>C	ENSP00000495651.1:p.Leu33=
ENST00000645088.1:c.97T>C	ENSP00000495447.1:p.Leu33=
ENST00000646862.1:c.97T>C	ENSP00000494599.1:p.Leu33=
ENST00000377270.7:c.97T>C	ENSP00000366482.3:p.Leu33=
ENST00000396364.7:c.97T>C	ENSP00000379650.3:p.Leu33=
ENST00000396366.6:c.97T>C	ENSP00000379652.2:p.Leu33=
NM_000144.4:c.97T>C	NP_000135.2:p.Leu33=
NM_001161706.1:c.97T>C	NP_001155178.1:p.Leu33=
NM_181425.2:c.97T>C	NP_852090.1:p.Leu33=
NM_000144.5:c.97T>C MANE Select	NP_000135.2:p.Leu33=
NM_181425.3:c.97T>C	NP_852090.1:p.Leu33=