Canonical Allele Identifier: CA2690188876

Gene: FXN

Linked Data

• gnomAD v4: 9-69065092-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065092G>C , CM000671.2:g.69065092G>C	GRCh38
NC_000009.11:g.71680008G>C , CM000671.1:g.71680008G>C	GRCh37
NC_000009.10:g.70869828G>C	NCBI36
NG_008845.2:g.34530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.257+57G>C	ENSP00000366482.4:n.257+57G>C
ENST00000484259.3:c.482+57G>C MANE Select	ENSP00000419243.2:n.482+57G>C
ENST00000642330.1:c.384+11832G>C	ENSP00000493770.1:n.384+11832G>C
ENST00000642889.1:c.165+29145G>C	ENSP00000493780.1:n.165+29145G>C
ENST00000643352.1:c.482+57G>C	ENSP00000496488.1:n.482+57G>C
ENST00000643765.1:c.480+57G>C
ENST00000644653.1:c.*85+57G>C	ENSP00000495217.1:n.*85+57G>C
ENST00000644977.1:c.*207+57G>C	ENSP00000495651.1:n.*207+57G>C
ENST00000645088.1:c.*85+57G>C	ENSP00000495447.1:n.*85+57G>C
ENST00000646862.1:c.384+11832G>C	ENSP00000494599.1:n.384+11832G>C
ENST00000377270.7:c.482+57G>C	ENSP00000366482.3:n.482+57G>C
ENST00000396364.7:c.482+57G>C	ENSP00000379650.3:n.482+57G>C
ENST00000396366.6:c.490+49G>C	ENSP00000379652.2:n.490+49G>C
ENST00000484259.1:c.174+57G>C
ENST00000498653.5:c.257+57G>C	ENSP00000418015.1:n.257+57G>C
NM_000144.4:c.482+57G>C	NP_000135.2:n.482+57G>C
NM_001161706.1:c.482+57G>C	NP_001155178.1:n.482+57G>C
NM_181425.2:c.490+49G>C	NP_852090.1:n.490+49G>C
NM_000144.5:c.482+57G>C MANE Select	NP_000135.2:n.482+57G>C
NM_181425.3:c.490+49G>C	NP_852090.1:n.490+49G>C