Canonical Allele Identifier: CA5072743

Gene: FXN

Linked Data

• dbSNP Id: rs777420129
• ExAC: 9:71679847 C / T
• gnomAD v4: 9-69064931-C-T
• MyVariant Identifiers: chr9:g.71679847C>T (hg19) ; chr9:g.69064931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064931C>T , CM000671.2:g.69064931C>T	GRCh38
NC_000009.11:g.71679847C>T , CM000671.1:g.71679847C>T	GRCh37
NC_000009.10:g.70869667C>T	NCBI36
NG_008845.2:g.34369C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.160-7C>T	ENSP00000366482.4:n.160-7C>T
ENST00000484259.3:c.385-7C>T MANE Select	ENSP00000419243.2:n.385-7C>T
ENST00000642330.1:c.384+11671C>T	ENSP00000493770.1:n.384+11671C>T
ENST00000642889.1:c.165+28984C>T	ENSP00000493780.1:n.165+28984C>T
ENST00000643352.1:c.385-7C>T	ENSP00000496488.1:n.385-7C>T
ENST00000643765.1:c.383-7C>T
ENST00000644653.1:c.264-7C>T	ENSP00000495217.1:n.264-7C>T
ENST00000644977.1:c.*110-7C>T	ENSP00000495651.1:n.*110-7C>T
ENST00000645088.1:c.264-7C>T	ENSP00000495447.1:n.264-7C>T
ENST00000646862.1:c.384+11671C>T	ENSP00000494599.1:n.384+11671C>T
ENST00000377270.7:c.385-7C>T	ENSP00000366482.3:n.385-7C>T
ENST00000396364.7:c.385-7C>T	ENSP00000379650.3:n.385-7C>T
ENST00000396366.6:c.385-7C>T	ENSP00000379652.2:n.385-7C>T
ENST00000484259.1:c.77-7C>T
ENST00000498653.5:c.160-7C>T	ENSP00000418015.1:n.160-7C>T
NM_000144.4:c.385-7C>T	NP_000135.2:n.385-7C>T
NM_001161706.1:c.385-7C>T	NP_001155178.1:n.385-7C>T
NM_181425.2:c.385-7C>T	NP_852090.1:n.385-7C>T
NM_000144.5:c.385-7C>T MANE Select	NP_000135.2:n.385-7C>T
NM_181425.3:c.385-7C>T	NP_852090.1:n.385-7C>T