Canonical Allele Identifier: CA015807

Gene: SDHB

Linked Data

• ClinVar Variation Id: 141423
• ClinVar RCV Id: RCV000129932
• dbSNP Id: rs587781735
• COSMIC: COSM1290045
• MyVariant Identifiers: chr1:g.17355132G>C (hg19) ; chr1:g.17028637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028637G>C , CM000663.2:g.17028637G>C	GRCh38
NC_000001.10:g.17355132G>C , CM000663.1:g.17355132G>C	GRCh37
NC_000001.9:g.17227719G>C	NCBI36
NG_012340.1:g.30534C>G , LRG_316:g.30534C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.215C>G	ENSP00000481376.2:p.Pro72Arg
ENST00000491274.6:c.344C>G	ENSP00000480482.2:p.Pro115Arg
ENST00000375499.8:c.386C>G MANE Select	ENSP00000364649.3:p.Pro129Arg
ENST00000375499.7:c.386C>G	ENSP00000364649.3:p.Pro129Arg
ENST00000463045.2:c.215C>G	ENSP00000481376.1:p.Pro72Arg
ENST00000475506.1:n.303C>G
ENST00000485515.5:n.357+17C>G
ENST00000491274.5:c.344C>G	ENSP00000480482.1:p.Pro115Arg
NM_003000.2:c.386C>G , LRG_316t1:c.386C>G	NP_002991.2:p.Pro129Arg
NM_003000.3:c.386C>G MANE Select	NP_002991.2:p.Pro129Arg