Canonical Allele Identifier: CA94296653

Gene: SOD3

Linked Data

• dbSNP Id: rs892228114
• gnomAD v2: 4-24796414-C-T
• gnomAD v3: 4-24794792-C-T
• gnomAD v4: 4-24794792-C-T
• MyVariant Identifiers: chr4:g.24796414C>T (hg19) ; chr4:g.24794792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24794792C>T , CM000666.2:g.24794792C>T	GRCh38
NC_000004.11:g.24796414C>T , CM000666.1:g.24796414C>T	GRCh37
NC_000004.10:g.24405512C>T	NCBI36
NG_012213.1:g.4330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598411.1:c.-17+4690C>T	ENSP00000472134.1:n.-17+4690C>T