Canonical Allele Identifier: CA793261069

Gene: SOD3

Linked Data

• dbSNP Id: rs1318939474
• gnomAD v3: 4-24794757-T-C
• gnomAD v4: 4-24794757-T-C
• MyVariant Identifiers: chr4:g.24796379T>C (hg19) ; chr4:g.24794757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24794757T>C , CM000666.2:g.24794757T>C	GRCh38
NC_000004.11:g.24796379T>C , CM000666.1:g.24796379T>C	GRCh37
NC_000004.10:g.24405477T>C	NCBI36
NG_012213.1:g.4295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598411.1:c.-17+4655T>C	ENSP00000472134.1:n.-17+4655T>C