Canonical Allele Identifier: CA016097

Gene: SDHB

Linked Data

• ClinVar Variation Id: 184933
• ClinVar RCV Id: RCV000164275 ; RCV000473831 ; RCV000522081 ; RCV003474855
• dbSNP Id: rs587782604
• gnomAD v2: 1-17349179-C-A
• gnomAD v4: 1-17022684-C-A
• MyVariant Identifiers: chr1:g.17349179C>A (hg19) ; chr1:g.17022684C>A (hg38)
• PubMed: PMID:18382370 ; PMID:19351833 ; PMID:23934599 ; PMID:25791839

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022684C>A , CM000663.2:g.17022684C>A	GRCh38
NC_000001.10:g.17349179C>A , CM000663.1:g.17349179C>A	GRCh37
NC_000001.9:g.17221766C>A	NCBI36
NG_012340.1:g.36487G>T , LRG_316:g.36487G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.518G>T	ENSP00000481376.2:p.Arg173Leu
ENST00000491274.6:c.647G>T	ENSP00000480482.2:p.Arg216Leu
ENST00000375499.8:c.689G>T MANE Select	ENSP00000364649.3:p.Arg230Leu
ENST00000375499.7:c.689G>T	ENSP00000364649.3:p.Arg230Leu
ENST00000475049.5:n.114G>T
ENST00000485092.5:n.353G>T
ENST00000485515.5:n.623G>T
NM_003000.2:c.689G>T , LRG_316t1:c.689G>T	NP_002991.2:p.Arg230Leu
NM_003000.3:c.689G>T MANE Select	NP_002991.2:p.Arg230Leu