Canonical Allele Identifier: CA193392948

Gene: FXN

Linked Data

• dbSNP Id: rs561007098
• gnomAD v3: 9-69064882-T-C
• gnomAD v4: 9-69064882-T-C
• MyVariant Identifiers: chr9:g.71679798T>C (hg19) ; chr9:g.69064882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064882T>C , CM000671.2:g.69064882T>C	GRCh38
NC_000009.11:g.71679798T>C , CM000671.1:g.71679798T>C	GRCh37
NC_000009.10:g.70869618T>C	NCBI36
NG_008845.2:g.34320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.160-56T>C	ENSP00000366482.4:n.160-56T>C
ENST00000484259.3:c.385-56T>C MANE Select	ENSP00000419243.2:n.385-56T>C
ENST00000642330.1:c.384+11622T>C	ENSP00000493770.1:n.384+11622T>C
ENST00000642889.1:c.165+28935T>C	ENSP00000493780.1:n.165+28935T>C
ENST00000643352.1:c.385-56T>C	ENSP00000496488.1:n.385-56T>C
ENST00000643765.1:c.383-56T>C
ENST00000644653.1:c.264-56T>C	ENSP00000495217.1:n.264-56T>C
ENST00000644977.1:c.*110-56T>C	ENSP00000495651.1:n.*110-56T>C
ENST00000645088.1:c.264-56T>C	ENSP00000495447.1:n.264-56T>C
ENST00000646862.1:c.384+11622T>C	ENSP00000494599.1:n.384+11622T>C
ENST00000377270.7:c.385-56T>C	ENSP00000366482.3:n.385-56T>C
ENST00000396364.7:c.385-56T>C	ENSP00000379650.3:n.385-56T>C
ENST00000396366.6:c.385-56T>C	ENSP00000379652.2:n.385-56T>C
ENST00000484259.1:c.77-56T>C
ENST00000498653.5:c.160-56T>C	ENSP00000418015.1:n.160-56T>C
NM_000144.4:c.385-56T>C	NP_000135.2:n.385-56T>C
NM_001161706.1:c.385-56T>C	NP_001155178.1:n.385-56T>C
NM_181425.2:c.385-56T>C	NP_852090.1:n.385-56T>C
NM_000144.5:c.385-56T>C MANE Select	NP_000135.2:n.385-56T>C
NM_181425.3:c.385-56T>C	NP_852090.1:n.385-56T>C