Canonical Allele Identifier: CA2876237
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3060611
ClinVar RCV Id: RCV003984590
dbSNP Id: rs8192291
ExAC: 4:24801354 C / T
gnomAD v2: 4-24801354-C-T
gnomAD v3: 4-24799732-C-T
gnomAD v4: 4-24799732-C-T
MyVariant Identifiers: chr4:g.24801354C>T (hg19) chr4:g.24799732C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799732C>T , CM000666.2:g.24799732C>T GRCh38
NC_000004.11:g.24801354C>T , CM000666.1:g.24801354C>T GRCh37
NC_000004.10:g.24410452C>T NCBI36
NG_012213.1:g.9270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.211C>T MANE Select ENSP00000371554.3:p.Leu71=
ENST00000382120.3:c.211C>T ENSP00000371554.3:p.Leu71=
NM_003102.2:c.211C>T NP_003093.2:p.Leu71=
XR_427488.1:n.401C>T
NM_003102.3:c.211C>T NP_003093.2:p.Leu71=
NM_003102.4:c.211C>T MANE Select NP_003093.2:p.Leu71=
Search 100 bp 5'
Search 100 bp 3'