Canonical Allele Identifier: CA373527234

Gene: FXN

Linked Data

• gnomAD v4: 9-69035784-T-G
• MyVariant Identifiers: chr9:g.71650700T>G (hg19) ; chr9:g.69035784T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035784T>G , CM000671.2:g.69035784T>G	GRCh38
NC_000009.11:g.71650700T>G , CM000671.1:g.71650700T>G	GRCh37
NC_000009.10:g.70840520T>G	NCBI36
NG_008845.2:g.5222T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000484259.3:c.2T>G MANE Select	ENSP00000419243.2:p.Met1Arg
ENST00000642330.1:c.2T>G	ENSP00000493770.1:p.Met1Arg
ENST00000642889.1:c.2T>G	ENSP00000493780.1:p.Met1Arg
ENST00000643352.1:c.2T>G	ENSP00000496488.1:p.Met1Arg
ENST00000644653.1:c.2T>G	ENSP00000495217.1:p.Met1Arg
ENST00000644977.1:c.2T>G	ENSP00000495651.1:p.Met1Arg
ENST00000645088.1:c.2T>G	ENSP00000495447.1:p.Met1Arg
ENST00000646862.1:c.2T>G	ENSP00000494599.1:p.Met1Arg
ENST00000377270.7:c.2T>G	ENSP00000366482.3:p.Met1Arg
ENST00000396364.7:c.2T>G	ENSP00000379650.3:p.Met1Arg
ENST00000396366.6:c.2T>G	ENSP00000379652.2:p.Met1Arg
NM_000144.4:c.2T>G	NP_000135.2:p.Met1Arg
NM_001161706.1:c.2T>G	NP_001155178.1:p.Met1Arg
NM_181425.2:c.2T>G	NP_852090.1:p.Met1Arg
NM_000144.5:c.2T>G MANE Select	NP_000135.2:p.Met1Arg
NM_181425.3:c.2T>G	NP_852090.1:p.Met1Arg