Canonical Allele Identifier: CA550461759

Gene: SOD3

Linked Data

• dbSNP Id: rs1268000042
• gnomAD v2: 4-24796633-C-G
• gnomAD v3: 4-24795011-C-G
• gnomAD v4: 4-24795011-C-G
• MyVariant Identifiers: chr4:g.24796633C>G (hg19) ; chr4:g.24795011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24795011C>G , CM000666.2:g.24795011C>G	GRCh38
NC_000004.11:g.24796633C>G , CM000666.1:g.24796633C>G	GRCh37
NC_000004.10:g.24405731C>G	NCBI36
NG_012213.1:g.4549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598411.1:c.-16-4495C>G	ENSP00000472134.1:n.-16-4495C>G