Canonical Allele Identifier: CA9998940
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618512
ClinVar RCV Id: RCV002082107
dbSNP Id: rs779802862
ExAC: 21:33039555 G / A
gnomAD v2: 21-33039555-G-A
gnomAD v3: 21-31667242-G-A
gnomAD v4: 21-31667242-G-A
MyVariant Identifiers: chr21:g.33039555G>A (hg19) chr21:g.31667242G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667242G>A , CM000683.2:g.31667242G>A GRCh38
NC_000021.8:g.33039555G>A , CM000683.1:g.33039555G>A GRCh37
NC_000021.7:g.31961426G>A NCBI36
NG_008689.1:g.12621G>A , LRG_652:g.12621G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.240-16G>A MANE Select ENSP00000270142.7:n.240-16G>A
ENST00000270142.10:c.240-16G>A ENSP00000270142.6:n.240-16G>A
ENST00000389995.4:c.183-16G>A ENSP00000374645.4:n.183-16G>A
ENST00000470944.1:n.1168-16G>A
ENST00000476106.5:n.503-16G>A
NM_000454.4:c.240-16G>A , LRG_652t1:c.240-16G>A NP_000445.1:n.240-16G>A
NM_000454.5:c.240-16G>A MANE Select NP_000445.1:n.240-16G>A
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