Canonical Allele Identifier: CA2690187662
Gene: FXN HGNC NCBI

Linked Data

gnomAD v4: 9-69035776-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035776G>T , CM000671.2:g.69035776G>T GRCh38
NC_000009.11:g.71650692G>T , CM000671.1:g.71650692G>T GRCh37
NC_000009.10:g.70840512G>T NCBI36
NG_008845.2:g.5214G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000484259.3:c.-7G>T MANE Select ENSP00000419243.2:n.-7G>T
ENST00000642330.1:c.-7G>T ENSP00000493770.1:n.-7G>T
ENST00000642889.1:c.-7G>T ENSP00000493780.1:n.-7G>T
ENST00000643352.1:c.-7G>T ENSP00000496488.1:n.-7G>T
ENST00000644653.1:c.-7G>T ENSP00000495217.1:n.-7G>T
ENST00000645088.1:c.-7G>T ENSP00000495447.1:n.-7G>T
ENST00000646862.1:c.-7G>T ENSP00000494599.1:n.-7G>T
ENST00000377270.7:c.-7G>T ENSP00000366482.3:n.-7G>T
ENST00000396364.7:c.-7G>T ENSP00000379650.3:n.-7G>T
ENST00000396366.6:c.-7G>T ENSP00000379652.2:n.-7G>T
NM_000144.4:c.-7G>T NP_000135.2:n.-7G>T
NM_001161706.1:c.-7G>T NP_001155178.1:n.-7G>T
NM_181425.2:c.-7G>T NP_852090.1:n.-7G>T
NM_000144.5:c.-7G>T MANE Select NP_000135.2:n.-7G>T
NM_181425.3:c.-7G>T NP_852090.1:n.-7G>T