Canonical Allele Identifier: CA373530736

Gene: FXN

Linked Data

• ClinVar Variation Id: 447362
• ClinVar RCV Id: RCV000516627
• dbSNP Id: rs1554761915
• MyVariant Identifiers: chr9:g.71679853G>C (hg19) ; chr9:g.69064937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064937G>C , CM000671.2:g.69064937G>C	GRCh38
NC_000009.11:g.71679853G>C , CM000671.1:g.71679853G>C	GRCh37
NC_000009.10:g.70869673G>C	NCBI36
NG_008845.2:g.34375G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.160-1G>C	ENSP00000366482.4:n.160-1G>C
ENST00000484259.3:c.385-1G>C MANE Select	ENSP00000419243.2:n.385-1G>C
ENST00000642330.1:c.384+11677G>C	ENSP00000493770.1:n.384+11677G>C
ENST00000642889.1:c.165+28990G>C	ENSP00000493780.1:n.165+28990G>C
ENST00000643352.1:c.385-1G>C	ENSP00000496488.1:n.385-1G>C
ENST00000643765.1:c.383-1G>C
ENST00000644653.1:c.264-1G>C	ENSP00000495217.1:n.264-1G>C
ENST00000644977.1:c.*110-1G>C	ENSP00000495651.1:n.*110-1G>C
ENST00000645088.1:c.264-1G>C	ENSP00000495447.1:n.264-1G>C
ENST00000646862.1:c.384+11677G>C	ENSP00000494599.1:n.384+11677G>C
ENST00000377270.7:c.385-1G>C	ENSP00000366482.3:n.385-1G>C
ENST00000396364.7:c.385-1G>C	ENSP00000379650.3:n.385-1G>C
ENST00000396366.6:c.385-1G>C	ENSP00000379652.2:n.385-1G>C
ENST00000484259.1:c.77-1G>C
ENST00000498653.5:c.160-1G>C	ENSP00000418015.1:n.160-1G>C
NM_000144.4:c.385-1G>C	NP_000135.2:n.385-1G>C
NM_001161706.1:c.385-1G>C	NP_001155178.1:n.385-1G>C
NM_181425.2:c.385-1G>C	NP_852090.1:n.385-1G>C
NM_000144.5:c.385-1G>C MANE Select	NP_000135.2:n.385-1G>C
NM_181425.3:c.385-1G>C	NP_852090.1:n.385-1G>C