Canonical Allele Identifier: CA793261097

Gene: SOD3

Linked Data

• dbSNP Id: rs1243172959
• gnomAD v3: 4-24794795-C-CA
• gnomAD v4: 4-24794795-C-CA
• MyVariant Identifiers: chr4:g.24796417_24796418insA (hg19) ; chr4:g.24794795_24794796insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24794802dup , CM000666.2:g.24794802dup	GRCh38
NC_000004.11:g.24796424dup , CM000666.1:g.24796424dup	GRCh37
NC_000004.10:g.24405522dup	NCBI36
NG_012213.1:g.4340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598411.1:c.-17+4700dup	ENSP00000472134.1:n.-17+4700dup