Canonical Allele Identifier: CA10587675
Gene: FXN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 264451
dbSNP Id: rs145854903

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035900C>T , CM000671.2:g.69035900C>T GRCh38
NC_000009.11:g.71650816C>T , CM000671.1:g.71650816C>T GRCh37
NC_000009.10:g.70840636C>T NCBI36
NG_008845.2:g.5338C>T

Transcript Alleles

HGVS Amino-acid change
NM_000144.4:c.118C>T VV NP_000135.2:p.Arg40Cys
NM_001161706.1:c.118C>T VV NP_001155178.1:p.Arg40Cys
NM_181425.2:c.118C>T VV NP_852090.1:p.Arg40Cys
NM_000144.5:c.118C>T VV MANE Preferred NP_000135.2:p.Arg40Cys
ENST00000377270.7:c.118C>T ENSP00000366482.3:p.Arg40Cys
ENST00000396364.7:c.118C>T ENSP00000379650.3:p.Arg40Cys
ENST00000396366.6:c.118C>T ENSP00000379652.2:p.Arg40Cys