Canonical Allele Identifier: CA252966
Gene: FXN HGNC NCBI

Linked Data

ClinVar Variation Id: 3982
dbSNP Id: rs104894107
gnomAD v2: 9-71679858-G-T
gnomAD v3: 9-69064942-G-T
gnomAD v4: 9-69064942-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064942G>T , CM000671.2:g.69064942G>T GRCh38
NC_000009.11:g.71679858G>T , CM000671.1:g.71679858G>T GRCh37
NC_000009.10:g.70869678G>T NCBI36
NG_008845.2:g.34380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.164G>T ENSP00000366482.4:p.Gly55Val
ENST00000484259.3:c.389G>T MANE Select ENSP00000419243.2:p.Gly130Val
ENST00000642330.1:c.384+11682G>T ENSP00000493770.1:n.384+11682G>T
ENST00000642889.1:c.165+28995G>T ENSP00000493780.1:n.165+28995G>T
ENST00000643352.1:c.389G>T ENSP00000496488.1:p.Gly130Val
ENST00000643765.1:c.387G>T
ENST00000644653.1:c.268G>T ENSP00000495217.1:p.Val90Leu
ENST00000644977.1:c.*114G>T ENSP00000495651.1:n.*114G>T
ENST00000645088.1:c.268G>T ENSP00000495447.1:p.Val90Leu
ENST00000646862.1:c.384+11682G>T ENSP00000494599.1:n.384+11682G>T
ENST00000377270.7:c.389G>T ENSP00000366482.3:p.Gly130Val
ENST00000396364.7:c.389G>T ENSP00000379650.3:p.Gly130Val
ENST00000396366.6:c.389G>T ENSP00000379652.2:p.Gly130Val
ENST00000484259.1:c.81G>T
ENST00000498653.5:c.164G>T ENSP00000418015.1:p.Gly55Val
NM_000144.4:c.389G>T NP_000135.2:p.Gly130Val
NM_001161706.1:c.389G>T NP_001155178.1:p.Gly130Val
NM_181425.2:c.389G>T NP_852090.1:p.Gly130Val
NM_000144.5:c.389G>T MANE Select NP_000135.2:p.Gly130Val
NM_181425.3:c.389G>T NP_852090.1:p.Gly130Val