Canonical Allele Identifier: CA16609913
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 417297
ClinVar RCV Id: RCV000470055 RCV002413312
dbSNP Id: rs1060505014
gnomAD v2: 1-17345436-T-C
gnomAD v4: 1-17018941-T-C
MyVariant Identifiers: chr1:g.17345436T>C (hg19) chr1:g.17018941T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17018941T>C , CM000663.2:g.17018941T>C GRCh38
NC_000001.10:g.17345436T>C , CM000663.1:g.17345436T>C GRCh37
NC_000001.9:g.17218023T>C NCBI36
NG_012340.1:g.40230A>G , LRG_316:g.40230A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.612A>G ENSP00000481376.2:p.Lys204=
ENST00000491274.6:c.741A>G ENSP00000480482.2:p.Lys247=
ENST00000375499.8:c.783A>G MANE Select ENSP00000364649.3:p.Lys261=
ENST00000375499.7:c.783A>G ENSP00000364649.3:p.Lys261=
ENST00000475049.5:n.208A>G
ENST00000485092.5:n.447A>G
NM_003000.2:c.783A>G , LRG_316t1:c.783A>G NP_002991.2:p.Lys261=
NM_003000.3:c.783A>G MANE Select NP_002991.2:p.Lys261=
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