Canonical Allele Identifier: CA193393082
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs138471431
gnomAD v4: 9-69065016-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065016T>C , CM000671.2:g.69065016T>C GRCh38
NC_000009.11:g.71679932T>C , CM000671.1:g.71679932T>C GRCh37
NC_000009.10:g.70869752T>C NCBI36
NG_008845.2:g.34454T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.238T>C ENSP00000366482.4:p.Trp80Arg
ENST00000484259.3:c.463T>C MANE Select ENSP00000419243.2:p.Trp155Arg
ENST00000642330.1:c.384+11756T>C ENSP00000493770.1:n.384+11756T>C
ENST00000642889.1:c.165+29069T>C ENSP00000493780.1:n.165+29069T>C
ENST00000643352.1:c.463T>C ENSP00000496488.1:p.Trp155Arg
ENST00000643765.1:c.461T>C
ENST00000644653.1:c.*66T>C ENSP00000495217.1:n.*66T>C
ENST00000644977.1:c.*188T>C ENSP00000495651.1:n.*188T>C
ENST00000645088.1:c.*66T>C ENSP00000495447.1:n.*66T>C
ENST00000646862.1:c.384+11756T>C ENSP00000494599.1:n.384+11756T>C
ENST00000377270.7:c.463T>C ENSP00000366482.3:p.Trp155Arg
ENST00000396364.7:c.463T>C ENSP00000379650.3:p.Trp155Arg
ENST00000396366.6:c.463T>C ENSP00000379652.2:p.Trp155Arg
ENST00000484259.1:c.155T>C
ENST00000498653.5:c.238T>C ENSP00000418015.1:p.Trp80Arg
NM_000144.4:c.463T>C NP_000135.2:p.Trp155Arg
NM_001161706.1:c.463T>C NP_001155178.1:p.Trp155Arg
NM_181425.2:c.463T>C NP_852090.1:p.Trp155Arg
NM_000144.5:c.463T>C MANE Select NP_000135.2:p.Trp155Arg
NM_181425.3:c.463T>C NP_852090.1:p.Trp155Arg