Canonical Allele Identifier: CA94296691

Gene: SOD3

Linked Data

• dbSNP Id: rs8192288
• gnomAD v2: 4-24796678-G-A
• gnomAD v3: 4-24795056-G-A
• gnomAD v4: 4-24795056-G-A
• MyVariant Identifiers: chr4:g.24796678G>A (hg19) ; chr4:g.24795056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24795056G>A , CM000666.2:g.24795056G>A	GRCh38
NC_000004.11:g.24796678G>A , CM000666.1:g.24796678G>A	GRCh37
NC_000004.10:g.24405776G>A	NCBI36
NG_012213.1:g.4594G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000598411.1:c.-16-4450G>A	ENSP00000472134.1:n.-16-4450G>A