Canonical Allele Identifier: CA089611

Gene: SDHB

Linked Data

• dbSNP Id: rs758672761
• ExAC: 1:17355048 GC / G
• gnomAD v2: 1-17355048-GC-G
• gnomAD v3: 1-17028553-GC-G
• gnomAD v4: 1-17028553-GC-G
• MyVariant Identifiers: chr1:g.17355049del (hg19) ; chr1:g.17028554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028559del , CM000663.2:g.17028559del	GRCh38
NC_000001.10:g.17355054del , CM000663.1:g.17355054del	GRCh37
NC_000001.9:g.17227641del	NCBI36
NG_012340.1:g.30617del , LRG_316:g.30617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.252+46del	ENSP00000481376.2:n.252+46del
ENST00000491274.6:c.381+46del	ENSP00000480482.2:n.381+46del
ENST00000375499.8:c.423+46del MANE Select	ENSP00000364649.3:n.423+46del
ENST00000375499.7:c.423+46del	ENSP00000364649.3:n.423+46del
ENST00000463045.2:c.252+46del	ENSP00000481376.1:n.252+46del
ENST00000475506.1:n.340+46del
ENST00000485515.5:n.357+100del
ENST00000491274.5:c.381+46del	ENSP00000480482.1:n.381+46del
NM_003000.2:c.423+46del , LRG_316t1:c.423+46del	NP_002991.2:n.423+46del
NM_003000.3:c.423+46del MANE Select	NP_002991.2:n.423+46del