Canonical Allele Identifier: CA16609944

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412478
• ClinVar RCV Id: RCV000473045 ; RCV000571526 ; RCV003449160
• dbSNP Id: rs772551056
• gnomAD v4: 1-17044824-C-A
• MyVariant Identifiers: chr1:g.17371319C>A (hg19) ; chr1:g.17044824C>A (hg38)
• PubMed: PMID:23175444

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044824C>A , CM000663.2:g.17044824C>A	GRCh38
NC_000001.10:g.17371319C>A , CM000663.1:g.17371319C>A	GRCh37
NC_000001.9:g.17243906C>A	NCBI36
NG_012340.1:g.14347G>T , LRG_316:g.14347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-35G>T	ENSP00000481376.2:n.-35G>T
ENST00000491274.6:c.95G>T	ENSP00000480482.2:p.Arg32Leu
ENST00000375499.8:c.137G>T MANE Select	ENSP00000364649.3:p.Arg46Leu
ENST00000375499.7:c.137G>T	ENSP00000364649.3:p.Arg46Leu
ENST00000463045.2:c.-35G>T	ENSP00000481376.1:n.-35G>T
ENST00000466613.2:n.149G>T
ENST00000475506.1:n.54G>T
ENST00000485515.5:n.125G>T
ENST00000491274.5:c.95G>T	ENSP00000480482.1:p.Arg32Leu
NM_003000.2:c.137G>T , LRG_316t1:c.137G>T	NP_002991.2:p.Arg46Leu
NM_003000.3:c.137G>T MANE Select	NP_002991.2:p.Arg46Leu