Canonical Allele Identifier: CA089518

Gene: SDHB

Linked Data

• ClinVar Variation Id: 449495
• ClinVar RCV Id: RCV000521448 ; RCV000693783 ; RCV001010888 ; RCV002268138 ; RCV003476220 ; RCV004003602
• dbSNP Id: rs200418115
• ExAC: 1:17371326 T / C
• gnomAD v2: 1-17371326-T-C
• gnomAD v3: 1-17044831-T-C
• gnomAD v4: 1-17044831-T-C
• MyVariant Identifiers: chr1:g.17371326T>C (hg19) ; chr1:g.17044831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044831T>C , CM000663.2:g.17044831T>C	GRCh38
NC_000001.10:g.17371326T>C , CM000663.1:g.17371326T>C	GRCh37
NC_000001.9:g.17243913T>C	NCBI36
NG_012340.1:g.14340A>G , LRG_316:g.14340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-42A>G	ENSP00000481376.2:n.-42A>G
ENST00000491274.6:c.88A>G	ENSP00000480482.2:p.Ile30Val
ENST00000375499.8:c.130A>G MANE Select	ENSP00000364649.3:p.Ile44Val
ENST00000375499.7:c.130A>G	ENSP00000364649.3:p.Ile44Val
ENST00000463045.2:c.-42A>G	ENSP00000481376.1:n.-42A>G
ENST00000466613.2:n.142A>G
ENST00000475506.1:n.47A>G
ENST00000485515.5:n.118A>G
ENST00000491274.5:c.88A>G	ENSP00000480482.1:p.Ile30Val
NM_003000.2:c.130A>G , LRG_316t1:c.130A>G	NP_002991.2:p.Ile44Val
NM_003000.3:c.130A>G MANE Select	NP_002991.2:p.Ile44Val