Canonical Allele Identifier: CA373530769

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71679869G>C (hg19) ; chr9:g.69064953G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064953G>C , CM000671.2:g.69064953G>C	GRCh38
NC_000009.11:g.71679869G>C , CM000671.1:g.71679869G>C	GRCh37
NC_000009.10:g.70869689G>C	NCBI36
NG_008845.2:g.34391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.175G>C	ENSP00000366482.4:p.Val59Leu
ENST00000484259.3:c.400G>C MANE Select	ENSP00000419243.2:p.Val134Leu
ENST00000642330.1:c.384+11693G>C	ENSP00000493770.1:n.384+11693G>C
ENST00000642889.1:c.165+29006G>C	ENSP00000493780.1:n.165+29006G>C
ENST00000643352.1:c.400G>C	ENSP00000496488.1:p.Val134Leu
ENST00000643765.1:c.398G>C
ENST00000644653.1:c.*3G>C	ENSP00000495217.1:n.*3G>C
ENST00000644977.1:c.*125G>C	ENSP00000495651.1:n.*125G>C
ENST00000645088.1:c.*3G>C	ENSP00000495447.1:n.*3G>C
ENST00000646862.1:c.384+11693G>C	ENSP00000494599.1:n.384+11693G>C
ENST00000377270.7:c.400G>C	ENSP00000366482.3:p.Val134Leu
ENST00000396364.7:c.400G>C	ENSP00000379650.3:p.Val134Leu
ENST00000396366.6:c.400G>C	ENSP00000379652.2:p.Val134Leu
ENST00000484259.1:c.92G>C
ENST00000498653.5:c.175G>C	ENSP00000418015.1:p.Val59Leu
NM_000144.4:c.400G>C	NP_000135.2:p.Val134Leu
NM_001161706.1:c.400G>C	NP_001155178.1:p.Val134Leu
NM_181425.2:c.400G>C	NP_852090.1:p.Val134Leu
NM_000144.5:c.400G>C MANE Select	NP_000135.2:p.Val134Leu
NM_181425.3:c.400G>C	NP_852090.1:p.Val134Leu