Canonical Allele Identifier: CA94296648

Gene: SOD3

Linked Data

• dbSNP Id: rs1040109048
• gnomAD v2: 4-24796384-A-C
• gnomAD v3: 4-24794762-A-C
• gnomAD v4: 4-24794762-A-C
• MyVariant Identifiers: chr4:g.24796384A>C (hg19) ; chr4:g.24794762A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24794762A>C , CM000666.2:g.24794762A>C	GRCh38
NC_000004.11:g.24796384A>C , CM000666.1:g.24796384A>C	GRCh37
NC_000004.10:g.24405482A>C	NCBI36
NG_012213.1:g.4300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598411.1:c.-17+4660A>C	ENSP00000472134.1:n.-17+4660A>C