Canonical Allele Identifier: CA2876235

Gene: SOD3

Linked Data

• dbSNP Id: rs776425101
• ExAC: 4:24801343 C / G
• gnomAD v2: 4-24801343-C-G
• gnomAD v3: 4-24799721-C-G
• gnomAD v4: 4-24799721-C-G
• COSMIC: COSM4985498
• MyVariant Identifiers: chr4:g.24801343C>G (hg19) ; chr4:g.24799721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799721C>G , CM000666.2:g.24799721C>G	GRCh38
NC_000004.11:g.24801343C>G , CM000666.1:g.24801343C>G	GRCh37
NC_000004.10:g.24410441C>G	NCBI36
NG_012213.1:g.9259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.200C>G MANE Select	ENSP00000371554.3:p.Pro67Arg
ENST00000382120.3:c.200C>G	ENSP00000371554.3:p.Pro67Arg
NM_003102.2:c.200C>G	NP_003093.2:p.Pro67Arg
XR_427488.1:n.390C>G
NM_003102.3:c.200C>G	NP_003093.2:p.Pro67Arg
NM_003102.4:c.200C>G MANE Select	NP_003093.2:p.Pro67Arg