Canonical Allele Identifier: CA588647886
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs1369768932
gnomAD v2: 9-71650626-C-A
gnomAD v3: 9-69035710-C-A
gnomAD v4: 9-69035710-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035710C>A , CM000671.2:g.69035710C>A GRCh38
NC_000009.11:g.71650626C>A , CM000671.1:g.71650626C>A GRCh37
NC_000009.10:g.70840446C>A NCBI36
NG_008845.2:g.5148C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.7:c.-73C>A ENSP00000366482.3:n.-73C>A
ENST00000396364.7:c.-73C>A ENSP00000379650.3:n.-73C>A
NM_000144.4:c.-73C>A NP_000135.2:n.-73C>A
NM_001161706.1:c.-73C>A NP_001155178.1:n.-73C>A
NM_181425.2:c.-73C>A NP_852090.1:n.-73C>A