Canonical Allele Identifier: CA015557

Gene: SDHB

Linked Data

• ClinVar Variation Id: 135192
• ClinVar RCV Id: RCV000129655 ; RCV000122000 ; RCV000148867 ; RCV000301812 ; RCV000358920 ; RCV000513898 ; RCV001083041 ; RCV003315777
• dbSNP Id: rs35962811
• ExAC: 1:17371286 T / C
• gnomAD v2: 1-17371286-T-C
• gnomAD v3: 1-17044791-T-C
• gnomAD v4: 1-17044791-T-C
• MyVariant Identifiers: chr1:g.17371286T>C (hg19) ; chr1:g.17044791T>C (hg38)
• PubMed: PMID:17376234 ; PMID:21979946 ; PMID:24728327 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044791T>C , CM000663.2:g.17044791T>C	GRCh38
NC_000001.10:g.17371286T>C , CM000663.1:g.17371286T>C	GRCh37
NC_000001.9:g.17243873T>C	NCBI36
NG_012340.1:g.14380A>G , LRG_316:g.14380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-2A>G	ENSP00000481376.2:n.-2A>G
ENST00000491274.6:c.128A>G	ENSP00000480482.2:p.His43Arg
ENST00000375499.8:c.170A>G MANE Select	ENSP00000364649.3:p.His57Arg
ENST00000375499.7:c.170A>G	ENSP00000364649.3:p.His57Arg
ENST00000463045.2:c.-2A>G	ENSP00000481376.1:n.-2A>G
ENST00000466613.2:n.182A>G
ENST00000475506.1:n.87A>G
ENST00000485515.5:n.158A>G
ENST00000491274.5:c.128A>G	ENSP00000480482.1:p.His43Arg
NM_003000.2:c.170A>G , LRG_316t1:c.170A>G	NP_002991.2:p.His57Arg
NM_003000.3:c.170A>G MANE Select	NP_002991.2:p.His57Arg