Canonical Allele Identifier: CA2876257

Gene: SOD3

Linked Data

• ClinVar Variation Id: 3167446
• ClinVar RCV Id: RCV004464811
• dbSNP Id: rs377252928
• ExAC: 4:24801456 G / C
• gnomAD v2: 4-24801456-G-C
• gnomAD v3: 4-24799834-G-C
• gnomAD v4: 4-24799834-G-C
• MyVariant Identifiers: chr4:g.24801456G>C (hg19) ; chr4:g.24799834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799834G>C , CM000666.2:g.24799834G>C	GRCh38
NC_000004.11:g.24801456G>C , CM000666.1:g.24801456G>C	GRCh37
NC_000004.10:g.24410554G>C	NCBI36
NG_012213.1:g.9372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.313G>C MANE Select	ENSP00000371554.3:p.Glu105Gln
ENST00000382120.3:c.313G>C	ENSP00000371554.3:p.Glu105Gln
NM_003102.2:c.313G>C	NP_003093.2:p.Glu105Gln
XR_427488.1:n.503G>C
NM_003102.3:c.313G>C	NP_003093.2:p.Glu105Gln
NM_003102.4:c.313G>C MANE Select	NP_003093.2:p.Glu105Gln