Canonical Allele Identifier: CA891842430

Gene: SDHB

Linked Data

• ClinVar Variation Id: 578517
• ClinVar RCV Id: RCV000701546
• dbSNP Id: rs1557741072
• gnomAD v4: 1-17027744-A-G
• MyVariant Identifiers: chr1:g.17354239A>G (hg19) ; chr1:g.17027744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027744A>G , CM000663.2:g.17027744A>G	GRCh38
NC_000001.10:g.17354239A>G , CM000663.1:g.17354239A>G	GRCh37
NC_000001.9:g.17226826A>G	NCBI36
NG_012340.1:g.31427T>C , LRG_316:g.31427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.369+5T>C	ENSP00000481376.2:n.369+5T>C
ENST00000491274.6:c.498+5T>C	ENSP00000480482.2:n.498+5T>C
ENST00000375499.8:c.540+5T>C MANE Select	ENSP00000364649.3:n.540+5T>C
ENST00000375499.7:c.540+5T>C	ENSP00000364649.3:n.540+5T>C
ENST00000475506.1:n.462T>C
ENST00000485515.5:n.474+5T>C
ENST00000491274.5:c.498+5T>C	ENSP00000480482.1:n.498+5T>C
NM_003000.2:c.540+5T>C , LRG_316t1:c.540+5T>C	NP_002991.2:n.540+5T>C
NM_003000.3:c.540+5T>C MANE Select	NP_002991.2:n.540+5T>C