Canonical Allele Identifier: CA890985590
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 949301
ClinVar RCV Id: RCV001220737 RCV002375201
dbSNP Id: rs1228108598
gnomAD v4: 1-17053944-T-C
MyVariant Identifiers: chr1:g.17380439T>C (hg19) chr1:g.17053944T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053944T>C , CM000663.2:g.17053944T>C GRCh38
NC_000001.10:g.17380439T>C , CM000663.1:g.17380439T>C GRCh37
NC_000001.9:g.17253026T>C NCBI36
NG_012340.1:g.5227A>G , LRG_316:g.5227A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.72+4A>G MANE Select ENSP00000364649.3:n.72+4A>G
ENST00000375499.7:c.72+4A>G ENSP00000364649.3:n.72+4A>G
ENST00000466613.2:n.84+4A>G
ENST00000485515.5:n.60+4A>G
NM_003000.2:c.72+4A>G , LRG_316t1:c.72+4A>G NP_002991.2:n.72+4A>G
NM_003000.3:c.72+4A>G MANE Select NP_002991.2:n.72+4A>G
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