Canonical Allele Identifier: CA193393064
Gene: FXN HGNC NCBI

Linked Data

ClinVar Variation Id: 549677
ClinVar RCV Id: RCV000664219
dbSNP Id: rs146818694
MyVariant Identifiers: chr9:g.71679907C>G (hg19) chr9:g.69064991C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064991C>G , CM000671.2:g.69064991C>G GRCh38
NC_000009.11:g.71679907C>G , CM000671.1:g.71679907C>G GRCh37
NC_000009.10:g.70869727C>G NCBI36
NG_008845.2:g.34429C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.213C>G ENSP00000366482.4:p.Asn71Lys
ENST00000484259.3:c.438C>G MANE Select ENSP00000419243.2:p.Asn146Lys
ENST00000642330.1:c.384+11731C>G ENSP00000493770.1:n.384+11731C>G
ENST00000642889.1:c.165+29044C>G ENSP00000493780.1:n.165+29044C>G
ENST00000643352.1:c.438C>G ENSP00000496488.1:p.Asn146Lys
ENST00000643765.1:c.436C>G
ENST00000644653.1:c.*41C>G ENSP00000495217.1:n.*41C>G
ENST00000644977.1:c.*163C>G ENSP00000495651.1:n.*163C>G
ENST00000645088.1:c.*41C>G ENSP00000495447.1:n.*41C>G
ENST00000646862.1:c.384+11731C>G ENSP00000494599.1:n.384+11731C>G
ENST00000377270.7:c.438C>G ENSP00000366482.3:p.Asn146Lys
ENST00000396364.7:c.438C>G ENSP00000379650.3:p.Asn146Lys
ENST00000396366.6:c.438C>G ENSP00000379652.2:p.Asn146Lys
ENST00000484259.1:c.130C>G
ENST00000498653.5:c.213C>G ENSP00000418015.1:p.Asn71Lys
NM_000144.4:c.438C>G NP_000135.2:p.Asn146Lys
NM_001161706.1:c.438C>G NP_001155178.1:p.Asn146Lys
NM_181425.2:c.438C>G NP_852090.1:p.Asn146Lys
NM_000144.5:c.438C>G MANE Select NP_000135.2:p.Asn146Lys
NM_181425.3:c.438C>G NP_852090.1:p.Asn146Lys
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