Canonical Allele Identifier: CA089666

Gene: SDHB

Linked Data

• ClinVar Variation Id: 417302
• ClinVar RCV Id: RCV000841202 ; RCV001082193 ; RCV000561330 ; RCV003514367
• dbSNP Id: rs199809975
• ExAC: 1:17350567 G / A
• gnomAD v2: 1-17350567-G-A
• gnomAD v3: 1-17024072-G-A
• gnomAD v4: 1-17024072-G-A
• MyVariant Identifiers: chr1:g.17350567G>A (hg19) ; chr1:g.17024072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024072G>A , CM000663.2:g.17024072G>A	GRCh38
NC_000001.10:g.17350567G>A , CM000663.1:g.17350567G>A	GRCh37
NC_000001.9:g.17223154G>A	NCBI36
NG_012340.1:g.35099C>T , LRG_316:g.35099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.372C>T	ENSP00000481376.2:p.Asp124=
ENST00000491274.6:c.501C>T	ENSP00000480482.2:p.Asp167=
ENST00000375499.8:c.543C>T MANE Select	ENSP00000364649.3:p.Asp181=
ENST00000375499.7:c.543C>T	ENSP00000364649.3:p.Asp181=
ENST00000485515.5:n.477C>T
ENST00000491274.5:c.501C>T	ENSP00000480482.1:p.Asp167=
NM_003000.2:c.543C>T , LRG_316t1:c.543C>T	NP_002991.2:p.Asp181=
NM_003000.3:c.543C>T MANE Select	NP_002991.2:p.Asp181=