Canonical Allele Identifier: CA229042120

Gene: FDX1

Linked Data

• dbSNP Id: rs1047482450
• gnomAD v2: 11-110331592-T-C
• gnomAD v3: 11-110460868-T-C
• gnomAD v4: 11-110460868-T-C
• MyVariant Identifiers: chr11:g.110331592T>C (hg19) ; chr11:g.110460868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110460868T>C , CM000673.2:g.110460868T>C	GRCh38
NC_000011.9:g.110331592T>C , CM000673.1:g.110331592T>C	GRCh37
NC_000011.8:g.109836802T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260270.3:c.441-1486T>C MANE Select	ENSP00000260270.2:n.441-1486T>C
ENST00000260270.2:c.441-1486T>C	ENSP00000260270.2:n.441-1486T>C
NM_004109.4:c.441-1486T>C	NP_004100.1:n.441-1486T>C
NM_004109.5:c.441-1486T>C MANE Select	NP_004100.1:n.441-1486T>C