Canonical Allele Identifier: CA089580
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 428916
ClinVar RCV Id: RCV000492591 RCV000505304 RCV000633945 RCV000660255
dbSNP Id: rs778952116
ExAC: 1:17355231 C / T
gnomAD v2: 1-17355231-C-T
gnomAD v3: 1-17028736-C-T
gnomAD v4: 1-17028736-C-T
COSMIC: COSM4778894
MyVariant Identifiers: chr1:g.17355231C>T (hg19) chr1:g.17028736C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028736C>T , CM000663.2:g.17028736C>T GRCh38
NC_000001.10:g.17355231C>T , CM000663.1:g.17355231C>T GRCh37
NC_000001.9:g.17227818C>T NCBI36
NG_012340.1:g.30435G>A , LRG_316:g.30435G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.116G>A ENSP00000481376.2:p.Gly39Asp
ENST00000491274.6:c.245G>A ENSP00000480482.2:p.Gly82Asp
ENST00000375499.8:c.287G>A MANE Select ENSP00000364649.3:p.Gly96Asp
ENST00000375499.7:c.287G>A ENSP00000364649.3:p.Gly96Asp
ENST00000463045.2:c.116G>A ENSP00000481376.1:p.Gly39Asp
ENST00000475506.1:n.204G>A
ENST00000485515.5:n.275G>A
ENST00000491274.5:c.245G>A ENSP00000480482.1:p.Gly82Asp
NM_003000.2:c.287G>A , LRG_316t1:c.287G>A NP_002991.2:p.Gly96Asp
NM_003000.3:c.287G>A MANE Select NP_002991.2:p.Gly96Asp
Search 100 bp 5'
Search 100 bp 3'