Canonical Allele Identifier: CA319330541
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 896435
ClinVar RCV Id: RCV001139080
dbSNP Id: rs568985632
gnomAD v2: 21-33031992-C-G
gnomAD v3: 21-31659679-C-G
gnomAD v4: 21-31659679-C-G
MyVariant Identifiers: chr21:g.33031992C>G (hg19) chr21:g.31659679C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659679C>G , CM000683.2:g.31659679C>G GRCh38
NC_000021.8:g.33031992C>G , CM000683.1:g.33031992C>G GRCh37
NC_000021.7:g.31953863C>G NCBI36
NG_008689.1:g.5058C>G , LRG_652:g.5058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-91C>G ENSP00000270142.6:n.-91C>G
ENST00000389995.4:c.-91C>G ENSP00000374645.4:n.-91C>G
NM_000454.4:c.-91C>G , LRG_652t1:c.-91C>G NP_000445.1:n.-91C>G
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