Canonical Allele Identifier: CA015853

Gene: SDHB

Linked Data

• ClinVar Variation Id: 18454
• ClinVar RCV Id: RCV000013634 ; RCV000132167 ; RCV000505751 ; RCV000505378 ; RCV000627753 ; RCV003473111
• dbSNP Id: rs267607032
• gnomAD v2: 1-17355100-C-A
• gnomAD v3: 1-17028605-C-A
• gnomAD v4: 1-17028605-C-A
• MyVariant Identifiers: chr1:g.17355100C>A (hg19) ; chr1:g.17028605C>A (hg38)
• PubMed: PMID:490809 ; PMID:16912137 ; PMID:18840642 ; PMID:19189136 ; PMID:19576851 ; PMID:19802898 ; PMID:19927285 ; PMID:20213850 ; PMID:20418362 ; PMID:20503330 ; PMID:20583550 ; PMID:22270996 ; PMID:23512077 ; PMID:28374168 ; PMID:28490599 ; PMID:28503760

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028605C>A , CM000663.2:g.17028605C>A	GRCh38
NC_000001.10:g.17355100C>A , CM000663.1:g.17355100C>A	GRCh37
NC_000001.9:g.17227687C>A	NCBI36
NG_012340.1:g.30566G>T , LRG_316:g.30566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.247G>T	ENSP00000481376.2:p.Val83Phe
ENST00000491274.6:c.376G>T	ENSP00000480482.2:p.Val126Phe
ENST00000375499.8:c.418G>T MANE Select	ENSP00000364649.3:p.Val140Phe
ENST00000375499.7:c.418G>T	ENSP00000364649.3:p.Val140Phe
ENST00000463045.2:c.247G>T	ENSP00000481376.1:p.Val83Phe
ENST00000475506.1:n.335G>T
ENST00000485515.5:n.357+49G>T
ENST00000491274.5:c.376G>T	ENSP00000480482.1:p.Val126Phe
NM_003000.2:c.418G>T , LRG_316t1:c.418G>T	NP_002991.2:p.Val140Phe
NM_003000.3:c.418G>T MANE Select	NP_002991.2:p.Val140Phe