Canonical Allele Identifier: CA338228397

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1763244
• ClinVar RCV Id: RCV002434904 ; RCV003776499 ; RCV004005769
• dbSNP Id: rs2101541615
• gnomAD v4: 1-17044878-C-G
• MyVariant Identifiers: chr1:g.17371373C>G (hg19) ; chr1:g.17044878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044878C>G , CM000663.2:g.17044878C>G	GRCh38
NC_000001.10:g.17371373C>G , CM000663.1:g.17371373C>G	GRCh37
NC_000001.9:g.17243960C>G	NCBI36
NG_012340.1:g.14293G>C , LRG_316:g.14293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-89G>C	ENSP00000481376.2:n.-89G>C
ENST00000491274.6:c.41G>C	ENSP00000480482.2:p.Gly14Ala
ENST00000375499.8:c.83G>C MANE Select	ENSP00000364649.3:p.Gly28Ala
ENST00000375499.7:c.83G>C	ENSP00000364649.3:p.Gly28Ala
ENST00000463045.2:c.-89G>C	ENSP00000481376.1:n.-89G>C
ENST00000466613.2:n.95G>C
ENST00000485515.5:n.71G>C
ENST00000491274.5:c.41G>C	ENSP00000480482.1:p.Gly14Ala
NM_003000.2:c.83G>C , LRG_316t1:c.83G>C	NP_002991.2:p.Gly28Ala
NM_003000.3:c.83G>C MANE Select	NP_002991.2:p.Gly28Ala