Canonical Allele Identifier: CA9998933
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256202
ClinVar RCV Id: RCV000248938 RCV001711536
dbSNP Id: rs2234694
ExAC: 21:33038865 A / C
gnomAD v2: 21-33038865-A-C
gnomAD v3: 21-31666552-A-C
gnomAD v4: 21-31666552-A-C
MyVariant Identifiers: chr21:g.33038865A>C (hg19) chr21:g.31666552A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31666552A>C , CM000683.2:g.31666552A>C GRCh38
NC_000021.8:g.33038865A>C , CM000683.1:g.33038865A>C GRCh37
NC_000021.7:g.31960736A>C NCBI36
NG_008689.1:g.11931A>C , LRG_652:g.11931A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.239+34A>C MANE Select ENSP00000270142.7:n.239+34A>C
ENST00000270142.10:c.239+34A>C ENSP00000270142.6:n.239+34A>C
ENST00000389995.4:c.182+34A>C ENSP00000374645.4:n.182+34A>C
ENST00000470944.1:n.1167+34A>C
ENST00000476106.5:n.502+34A>C
NM_000454.4:c.239+34A>C , LRG_652t1:c.239+34A>C NP_000445.1:n.239+34A>C
NM_000454.5:c.239+34A>C MANE Select NP_000445.1:n.239+34A>C
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