Canonical Allele Identifier: CA252970

Gene: FXN

Linked Data

• ClinVar Variation Id: 3984
• ClinVar RCV Id: RCV000004191
• dbSNP Id: rs56214919
• MyVariant Identifiers: chr9:g.71687562T>G (hg19) ; chr9:g.69072646T>G (hg38)
• PubMed: PMID:9989622 ; PMID:17331979 ; PMID:17703324

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072646T>G , CM000671.2:g.69072646T>G	GRCh38
NC_000009.11:g.71687562T>G , CM000671.1:g.71687562T>G	GRCh37
NC_000009.10:g.70877382T>G	NCBI36
NG_008845.2:g.42084T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.292T>G	ENSP00000366482.4:p.Trp98Gly
ENST00000484259.3:c.517T>G MANE Select	ENSP00000419243.2:p.Trp173Gly
ENST00000642330.1:c.384+19386T>G	ENSP00000493770.1:n.384+19386T>G
ENST00000642889.1:c.166-27255T>G	ENSP00000493780.1:n.166-27255T>G
ENST00000643352.1:c.482+7611T>G	ENSP00000496488.1:n.482+7611T>G
ENST00000643765.1:c.480+7611T>G
ENST00000644653.1:c.*120T>G	ENSP00000495217.1:n.*120T>G
ENST00000644977.1:c.*207+7611T>G	ENSP00000495651.1:n.*207+7611T>G
ENST00000645088.1:c.*85+7611T>G	ENSP00000495447.1:n.*85+7611T>G
ENST00000646862.1:c.384+19386T>G	ENSP00000494599.1:n.384+19386T>G
ENST00000377270.7:c.517T>G	ENSP00000366482.3:p.Trp173Gly
ENST00000396364.7:c.482+7611T>G	ENSP00000379650.3:n.482+7611T>G
ENST00000396366.6:c.525T>G	ENSP00000379652.2:p.Thr175=
ENST00000484259.1:c.209T>G
ENST00000498653.5:c.292T>G	ENSP00000418015.1:p.Trp98Gly
NM_000144.4:c.517T>G	NP_000135.2:p.Trp173Gly
NM_001161706.1:c.482+7611T>G	NP_001155178.1:n.482+7611T>G
NM_181425.2:c.525T>G	NP_852090.1:p.Thr175=
NM_000144.5:c.517T>G MANE Select	NP_000135.2:p.Trp173Gly
NM_181425.3:c.525T>G	NP_852090.1:p.Thr175=