Canonical Allele Identifier: CA373623487

Gene: FXN

Linked Data

• gnomAD v4: 9-69072619-A-T
• MyVariant Identifiers: chr9:g.71687535A>T (hg19) ; chr9:g.69072619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072619A>T , CM000671.2:g.69072619A>T	GRCh38
NC_000009.11:g.71687535A>T , CM000671.1:g.71687535A>T	GRCh37
NC_000009.10:g.70877355A>T	NCBI36
NG_008845.2:g.42057A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.265A>T	ENSP00000366482.4:p.Lys89Ter
ENST00000484259.3:c.490A>T MANE Select	ENSP00000419243.2:p.Lys164Ter
ENST00000642330.1:c.384+19359A>T	ENSP00000493770.1:n.384+19359A>T
ENST00000642889.1:c.166-27282A>T	ENSP00000493780.1:n.166-27282A>T
ENST00000643352.1:c.482+7584A>T	ENSP00000496488.1:n.482+7584A>T
ENST00000643765.1:c.480+7584A>T
ENST00000644653.1:c.*93A>T	ENSP00000495217.1:n.*93A>T
ENST00000644977.1:c.*207+7584A>T	ENSP00000495651.1:n.*207+7584A>T
ENST00000645088.1:c.*85+7584A>T	ENSP00000495447.1:n.*85+7584A>T
ENST00000646862.1:c.384+19359A>T	ENSP00000494599.1:n.384+19359A>T
ENST00000377270.7:c.490A>T	ENSP00000366482.3:p.Lys164Ter
ENST00000396364.7:c.482+7584A>T	ENSP00000379650.3:n.482+7584A>T
ENST00000396366.6:c.498A>T	ENSP00000379652.2:p.Leu166=
ENST00000484259.1:c.182A>T
ENST00000498653.5:c.265A>T	ENSP00000418015.1:p.Lys89Ter
NM_000144.4:c.490A>T	NP_000135.2:p.Lys164Ter
NM_001161706.1:c.482+7584A>T	NP_001155178.1:n.482+7584A>T
NM_181425.2:c.498A>T	NP_852090.1:p.Leu166=
NM_000144.5:c.490A>T MANE Select	NP_000135.2:p.Lys164Ter
NM_181425.3:c.498A>T	NP_852090.1:p.Leu166=