Canonical Allele Identifier: CA338273404

Gene: SDHB

Linked Data

• ClinVar Variation Id: 459147
• ClinVar RCV Id: RCV000556121 ; RCV001022374
• dbSNP Id: rs1553177689
• gnomAD v4: 1-17027853-A-C
• MyVariant Identifiers: chr1:g.17354348A>C (hg19) ; chr1:g.17027853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027853A>C , CM000663.2:g.17027853A>C	GRCh38
NC_000001.10:g.17354348A>C , CM000663.1:g.17354348A>C	GRCh37
NC_000001.9:g.17226935A>C	NCBI36
NG_012340.1:g.31318T>G , LRG_316:g.31318T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.265T>G	ENSP00000481376.2:p.Phe89Val
ENST00000491274.6:c.394T>G	ENSP00000480482.2:p.Phe132Val
ENST00000375499.8:c.436T>G MANE Select	ENSP00000364649.3:p.Phe146Val
ENST00000375499.7:c.436T>G	ENSP00000364649.3:p.Phe146Val
ENST00000463045.2:c.265T>G	ENSP00000481376.1:p.Phe89Val
ENST00000475506.1:n.353T>G
ENST00000485515.5:n.370T>G
ENST00000491274.5:c.394T>G	ENSP00000480482.1:p.Phe132Val
NM_003000.2:c.436T>G , LRG_316t1:c.436T>G	NP_002991.2:p.Phe146Val
NM_003000.3:c.436T>G MANE Select	NP_002991.2:p.Phe146Val