Canonical Allele Identifier: CA2579347225

Gene: FXN

Linked Data

• gnomAD v4: 9-69035780-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035780A>C , CM000671.2:g.69035780A>C	GRCh38
NC_000009.11:g.71650696A>C , CM000671.1:g.71650696A>C	GRCh37
NC_000009.10:g.70840516A>C	NCBI36
NG_008845.2:g.5218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.-3A>C MANE Select	ENSP00000419243.2:n.-3A>C
ENST00000642330.1:c.-3A>C	ENSP00000493770.1:n.-3A>C
ENST00000642889.1:c.-3A>C	ENSP00000493780.1:n.-3A>C
ENST00000643352.1:c.-3A>C	ENSP00000496488.1:n.-3A>C
ENST00000644653.1:c.-3A>C	ENSP00000495217.1:n.-3A>C
ENST00000645088.1:c.-3A>C	ENSP00000495447.1:n.-3A>C
ENST00000646862.1:c.-3A>C	ENSP00000494599.1:n.-3A>C
ENST00000377270.7:c.-3A>C	ENSP00000366482.3:n.-3A>C
ENST00000396364.7:c.-3A>C	ENSP00000379650.3:n.-3A>C
ENST00000396366.6:c.-3A>C	ENSP00000379652.2:n.-3A>C
NM_000144.4:c.-3A>C	NP_000135.2:n.-3A>C
NM_001161706.1:c.-3A>C	NP_001155178.1:n.-3A>C
NM_181425.2:c.-3A>C	NP_852090.1:n.-3A>C
NM_000144.5:c.-3A>C MANE Select	NP_000135.2:n.-3A>C
NM_181425.3:c.-3A>C	NP_852090.1:n.-3A>C