Canonical Allele Identifier: CA866354959
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs1419967330
gnomAD v3: 9-69064842-G-T
gnomAD v4: 9-69064842-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064842G>T , CM000671.2:g.69064842G>T GRCh38
NC_000009.11:g.71679758G>T , CM000671.1:g.71679758G>T GRCh37
NC_000009.10:g.70869578G>T NCBI36
NG_008845.2:g.34280G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.160-96G>T ENSP00000366482.4:n.160-96G>T
ENST00000484259.3:c.385-96G>T MANE Select ENSP00000419243.2:n.385-96G>T
ENST00000642330.1:c.384+11582G>T ENSP00000493770.1:n.384+11582G>T
ENST00000642889.1:c.165+28895G>T ENSP00000493780.1:n.165+28895G>T
ENST00000643352.1:c.385-96G>T ENSP00000496488.1:n.385-96G>T
ENST00000643765.1:c.383-96G>T
ENST00000644653.1:c.264-96G>T ENSP00000495217.1:n.264-96G>T
ENST00000644977.1:c.*110-96G>T ENSP00000495651.1:n.*110-96G>T
ENST00000645088.1:c.264-96G>T ENSP00000495447.1:n.264-96G>T
ENST00000646862.1:c.384+11582G>T ENSP00000494599.1:n.384+11582G>T
ENST00000377270.7:c.385-96G>T ENSP00000366482.3:n.385-96G>T
ENST00000396364.7:c.385-96G>T ENSP00000379650.3:n.385-96G>T
ENST00000396366.6:c.385-96G>T ENSP00000379652.2:n.385-96G>T
ENST00000484259.1:c.77-96G>T
ENST00000498653.5:c.160-96G>T ENSP00000418015.1:n.160-96G>T
NM_000144.4:c.385-96G>T NP_000135.2:n.385-96G>T
NM_001161706.1:c.385-96G>T NP_001155178.1:n.385-96G>T
NM_181425.2:c.385-96G>T NP_852090.1:n.385-96G>T
NM_000144.5:c.385-96G>T MANE Select NP_000135.2:n.385-96G>T
NM_181425.3:c.385-96G>T NP_852090.1:n.385-96G>T