Canonical Allele Identifier: CA16609912
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412486
ClinVar RCV Id: RCV000470317 RCV000570702
dbSNP Id: rs770622939
gnomAD v4: 1-17023978-T-C
MyVariant Identifiers: chr1:g.17350473T>C (hg19) chr1:g.17023978T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17023978T>C , CM000663.2:g.17023978T>C GRCh38
NC_000001.10:g.17350473T>C , CM000663.1:g.17350473T>C GRCh37
NC_000001.9:g.17223060T>C NCBI36
NG_012340.1:g.35193A>G , LRG_316:g.35193A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.466A>G ENSP00000481376.2:p.Met156Val
ENST00000491274.6:c.595A>G ENSP00000480482.2:p.Met199Val
ENST00000375499.8:c.637A>G MANE Select ENSP00000364649.3:p.Met213Val
ENST00000375499.7:c.637A>G ENSP00000364649.3:p.Met213Val
ENST00000485515.5:n.571A>G
ENST00000491274.5:c.595A>G ENSP00000480482.1:p.Met199Val
NM_003000.2:c.637A>G , LRG_316t1:c.637A>G NP_002991.2:p.Met213Val
NM_003000.3:c.637A>G MANE Select NP_002991.2:p.Met213Val
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