Canonical Allele Identifier: CA338270477
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 528738
ClinVar RCV Id: RCV000633961 RCV002360531 RCV004003828
dbSNP Id: rs1188548211
gnomAD v2: 1-17349210-T-C
gnomAD v4: 1-17022715-T-C
MyVariant Identifiers: chr1:g.17349210T>C (hg19) chr1:g.17022715T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022715T>C , CM000663.2:g.17022715T>C GRCh38
NC_000001.10:g.17349210T>C , CM000663.1:g.17349210T>C GRCh37
NC_000001.9:g.17221797T>C NCBI36
NG_012340.1:g.36456A>G , LRG_316:g.36456A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.487A>G ENSP00000481376.2:p.Ile163Val
ENST00000491274.6:c.616A>G ENSP00000480482.2:p.Ile206Val
ENST00000375499.8:c.658A>G MANE Select ENSP00000364649.3:p.Ile220Val
ENST00000375499.7:c.658A>G ENSP00000364649.3:p.Ile220Val
ENST00000475049.5:n.83A>G
ENST00000485092.5:n.322A>G
ENST00000485515.5:n.592A>G
NM_003000.2:c.658A>G , LRG_316t1:c.658A>G NP_002991.2:p.Ile220Val
NM_003000.3:c.658A>G MANE Select NP_002991.2:p.Ile220Val
Search 100 bp 5'
Search 100 bp 3'