Canonical Allele Identifier: CA645509069

Gene: SDHB

Linked Data

• ClinVar Variation Id: 438416
• ClinVar RCV Id: RCV000505383 ; RCV001228851
• dbSNP Id: rs1553177739
• MyVariant Identifiers: chr1:g.17355126del (hg19) ; chr1:g.17028631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028632del , CM000663.2:g.17028632del	GRCh38
NC_000001.10:g.17355127del , CM000663.1:g.17355127del	GRCh37
NC_000001.9:g.17227714del	NCBI36
NG_012340.1:g.30540del , LRG_316:g.30540del

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.221del	ENSP00000481376.2:p.Pro74HisfsTer5
ENST00000491274.6:c.350del	ENSP00000480482.2:p.Pro117HisfsTer5
ENST00000375499.8:c.392del MANE Select	ENSP00000364649.3:p.Pro131HisfsTer5
ENST00000375499.7:c.392del	ENSP00000364649.3:p.Pro131HisfsTer5
ENST00000463045.2:c.221del	ENSP00000481376.1:p.Pro74HisfsTer5
ENST00000475506.1:n.309del
ENST00000485515.5:n.357+23del
ENST00000491274.5:c.350del	ENSP00000480482.1:p.Pro117HisfsTer5
NM_003000.2:c.392del , LRG_316t1:c.392del	NP_002991.2:p.Pro131HisfsTer5
NM_003000.3:c.392del MANE Select	NP_002991.2:p.Pro131HisfsTer5