Canonical Allele Identifier: CA338270252
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 459165
ClinVar RCV Id: RCV000525605 RCV003302797
dbSNP Id: rs1553177278
gnomAD v4: 1-17022659-G-T
MyVariant Identifiers: chr1:g.17349154G>T (hg19) chr1:g.17022659G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022659G>T , CM000663.2:g.17022659G>T GRCh38
NC_000001.10:g.17349154G>T , CM000663.1:g.17349154G>T GRCh37
NC_000001.9:g.17221741G>T NCBI36
NG_012340.1:g.36512C>A , LRG_316:g.36512C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.543C>A ENSP00000481376.2:p.Phe181Leu
ENST00000491274.6:c.672C>A ENSP00000480482.2:p.Phe224Leu
ENST00000375499.8:c.714C>A MANE Select ENSP00000364649.3:p.Phe238Leu
ENST00000375499.7:c.714C>A ENSP00000364649.3:p.Phe238Leu
ENST00000475049.5:n.139C>A
ENST00000485092.5:n.378C>A
ENST00000485515.5:n.648C>A
NM_003000.2:c.714C>A , LRG_316t1:c.714C>A NP_002991.2:p.Phe238Leu
NM_003000.3:c.714C>A MANE Select NP_002991.2:p.Phe238Leu
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