Canonical Allele Identifier: CA1139655469

Gene: SDHB

Linked Data

• ClinVar Variation Id: 992238
• ClinVar RCV Id: RCV001280632 ; RCV001871612 ; RCV002339706
• dbSNP Id: rs2077999823
• gnomAD v4: 1-17027818-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027821del , CM000663.2:g.17027821del	GRCh38
NC_000001.10:g.17354316del , CM000663.1:g.17354316del	GRCh37
NC_000001.9:g.17226903del	NCBI36
NG_012340.1:g.31352del , LRG_316:g.31352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.299del	ENSP00000481376.2:p.Leu100Ter
ENST00000491274.6:c.428del	ENSP00000480482.2:p.Leu143Ter
ENST00000375499.8:c.470del MANE Select	ENSP00000364649.3:p.Leu157Ter
ENST00000375499.7:c.470del	ENSP00000364649.3:p.Leu157Ter
ENST00000463045.2:c.299del	ENSP00000481376.1:p.Leu100Ter
ENST00000475506.1:n.387del
ENST00000485515.5:n.404del
ENST00000491274.5:c.428del	ENSP00000480482.1:p.Leu143Ter
NM_003000.2:c.470del , LRG_316t1:c.470del	NP_002991.2:p.Leu157Ter
NM_003000.3:c.470del MANE Select	NP_002991.2:p.Leu157Ter