Canonical Allele Identifier: CA5072802

Gene: FXN

Linked Data

• dbSNP Id: rs143396368
• ExAC: 9:71687539 G / C
• gnomAD v2: 9-71687539-G-C
• gnomAD v4: 9-69072623-G-C
• MyVariant Identifiers: chr9:g.71687539G>C (hg19) ; chr9:g.69072623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072623G>C , CM000671.2:g.69072623G>C	GRCh38
NC_000009.11:g.71687539G>C , CM000671.1:g.71687539G>C	GRCh37
NC_000009.10:g.70877359G>C	NCBI36
NG_008845.2:g.42061G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.269G>C	ENSP00000366482.4:p.Arg90Pro
ENST00000484259.3:c.494G>C MANE Select	ENSP00000419243.2:p.Arg165Pro
ENST00000642330.1:c.384+19363G>C	ENSP00000493770.1:n.384+19363G>C
ENST00000642889.1:c.166-27278G>C	ENSP00000493780.1:n.166-27278G>C
ENST00000643352.1:c.482+7588G>C	ENSP00000496488.1:n.482+7588G>C
ENST00000643765.1:c.480+7588G>C
ENST00000644653.1:c.*97G>C	ENSP00000495217.1:n.*97G>C
ENST00000644977.1:c.*207+7588G>C	ENSP00000495651.1:n.*207+7588G>C
ENST00000645088.1:c.*85+7588G>C	ENSP00000495447.1:n.*85+7588G>C
ENST00000646862.1:c.384+19363G>C	ENSP00000494599.1:n.384+19363G>C
ENST00000377270.7:c.494G>C	ENSP00000366482.3:p.Arg165Pro
ENST00000396364.7:c.482+7588G>C	ENSP00000379650.3:n.482+7588G>C
ENST00000396366.6:c.502G>C	ENSP00000379652.2:p.Val168Leu
ENST00000484259.1:c.186G>C
ENST00000498653.5:c.269G>C	ENSP00000418015.1:p.Arg90Pro
NM_000144.4:c.494G>C	NP_000135.2:p.Arg165Pro
NM_001161706.1:c.482+7588G>C	NP_001155178.1:n.482+7588G>C
NM_181425.2:c.502G>C	NP_852090.1:p.Val168Leu
NM_000144.5:c.494G>C MANE Select	NP_000135.2:p.Arg165Pro
NM_181425.3:c.502G>C	NP_852090.1:p.Val168Leu