Canonical Allele Identifier: CA338230609
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 452783
ClinVar RCV Id: RCV000519644 RCV000633968 RCV002367747 RCV003476224
dbSNP Id: rs1553179319
gnomAD v4: 1-17053953-G-C
MyVariant Identifiers: chr1:g.17380448G>C (hg19) chr1:g.17053953G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053953G>C , CM000663.2:g.17053953G>C GRCh38
NC_000001.10:g.17380448G>C , CM000663.1:g.17380448G>C GRCh37
NC_000001.9:g.17253035G>C NCBI36
NG_012340.1:g.5218C>G , LRG_316:g.5218C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.67C>G MANE Select ENSP00000364649.3:p.Leu23Val
ENST00000375499.7:c.67C>G ENSP00000364649.3:p.Leu23Val
ENST00000466613.2:n.79C>G
ENST00000485515.5:n.55C>G
NM_003000.2:c.67C>G , LRG_316t1:c.67C>G NP_002991.2:p.Leu23Val
NM_003000.3:c.67C>G MANE Select NP_002991.2:p.Leu23Val
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