Canonical Allele Identifier: CA5072753

Gene: FXN

Linked Data

• dbSNP Id: rs765250715
• ExAC: 9:71679913 G / A
• gnomAD v2: 9-71679913-G-A
• gnomAD v3: 9-69064997-G-A
• gnomAD v4: 9-69064997-G-A
• MyVariant Identifiers: chr9:g.71679913G>A (hg19) ; chr9:g.69064997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064997G>A , CM000671.2:g.69064997G>A	GRCh38
NC_000009.11:g.71679913G>A , CM000671.1:g.71679913G>A	GRCh37
NC_000009.10:g.70869733G>A	NCBI36
NG_008845.2:g.34435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.219G>A	ENSP00000366482.4:p.Gln73=
ENST00000484259.3:c.444G>A MANE Select	ENSP00000419243.2:p.Gln148=
ENST00000642330.1:c.384+11737G>A	ENSP00000493770.1:n.384+11737G>A
ENST00000642889.1:c.165+29050G>A	ENSP00000493780.1:n.165+29050G>A
ENST00000643352.1:c.444G>A	ENSP00000496488.1:p.Gln148=
ENST00000643765.1:c.442G>A
ENST00000644653.1:c.*47G>A	ENSP00000495217.1:n.*47G>A
ENST00000644977.1:c.*169G>A	ENSP00000495651.1:n.*169G>A
ENST00000645088.1:c.*47G>A	ENSP00000495447.1:n.*47G>A
ENST00000646862.1:c.384+11737G>A	ENSP00000494599.1:n.384+11737G>A
ENST00000377270.7:c.444G>A	ENSP00000366482.3:p.Gln148=
ENST00000396364.7:c.444G>A	ENSP00000379650.3:p.Gln148=
ENST00000396366.6:c.444G>A	ENSP00000379652.2:p.Gln148=
ENST00000484259.1:c.136G>A
ENST00000498653.5:c.219G>A	ENSP00000418015.1:p.Gln73=
NM_000144.4:c.444G>A	NP_000135.2:p.Gln148=
NM_001161706.1:c.444G>A	NP_001155178.1:p.Gln148=
NM_181425.2:c.444G>A	NP_852090.1:p.Gln148=
NM_000144.5:c.444G>A MANE Select	NP_000135.2:p.Gln148=
NM_181425.3:c.444G>A	NP_852090.1:p.Gln148=