Canonical Allele Identifier: CA1125110085
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs1831532895
gnomAD v3: 9-69035619-C-T
gnomAD v4: 9-69035619-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035619C>T , CM000671.2:g.69035619C>T GRCh38
NC_000009.11:g.71650535C>T , CM000671.1:g.71650535C>T GRCh37
NC_000009.10:g.70840355C>T NCBI36
NG_008845.2:g.5057C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.7:c.-164C>T ENSP00000366482.3:n.-164C>T
ENST00000396364.7:c.-164C>T ENSP00000379650.3:n.-164C>T
NM_000144.4:c.-164C>T NP_000135.2:n.-164C>T
NM_001161706.1:c.-164C>T NP_001155178.1:n.-164C>T
NM_181425.2:c.-164C>T NP_852090.1:n.-164C>T
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