Canonical Allele Identifier: CA891842431

Gene: SDHB

Linked Data

• ClinVar Variation Id: 576256
• ClinVar RCV Id: RCV000698715
• dbSNP Id: rs1557741074
• gnomAD v4: 1-17027745-T-C
• MyVariant Identifiers: chr1:g.17354240T>C (hg19) ; chr1:g.17027745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027745T>C , CM000663.2:g.17027745T>C	GRCh38
NC_000001.10:g.17354240T>C , CM000663.1:g.17354240T>C	GRCh37
NC_000001.9:g.17226827T>C	NCBI36
NG_012340.1:g.31426A>G , LRG_316:g.31426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.369+4A>G	ENSP00000481376.2:n.369+4A>G
ENST00000491274.6:c.498+4A>G	ENSP00000480482.2:n.498+4A>G
ENST00000375499.8:c.540+4A>G MANE Select	ENSP00000364649.3:n.540+4A>G
ENST00000375499.7:c.540+4A>G	ENSP00000364649.3:n.540+4A>G
ENST00000475506.1:n.461A>G
ENST00000485515.5:n.474+4A>G
ENST00000491274.5:c.498+4A>G	ENSP00000480482.1:n.498+4A>G
NM_003000.2:c.540+4A>G , LRG_316t1:c.540+4A>G	NP_002991.2:n.540+4A>G
NM_003000.3:c.540+4A>G MANE Select	NP_002991.2:n.540+4A>G