Canonical Allele Identifier: CA9998941
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201053
ClinVar RCV Id: RCV002654885
dbSNP Id: rs571699772
ExAC: 21:33039557 T / C
gnomAD v2: 21-33039557-T-C
gnomAD v3: 21-31667244-T-C
gnomAD v4: 21-31667244-T-C
MyVariant Identifiers: chr21:g.33039557T>C (hg19) chr21:g.31667244T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667244T>C , CM000683.2:g.31667244T>C GRCh38
NC_000021.8:g.33039557T>C , CM000683.1:g.33039557T>C GRCh37
NC_000021.7:g.31961428T>C NCBI36
NG_008689.1:g.12623T>C , LRG_652:g.12623T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.240-14T>C MANE Select ENSP00000270142.7:n.240-14T>C
ENST00000270142.10:c.240-14T>C ENSP00000270142.6:n.240-14T>C
ENST00000389995.4:c.183-14T>C ENSP00000374645.4:n.183-14T>C
ENST00000470944.1:n.1168-14T>C
ENST00000476106.5:n.503-14T>C
NM_000454.4:c.240-14T>C , LRG_652t1:c.240-14T>C NP_000445.1:n.240-14T>C
NM_000454.5:c.240-14T>C MANE Select NP_000445.1:n.240-14T>C
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