Canonical Allele Identifier: CA089641

Gene: SDHB

Linked Data

• ClinVar Variation Id: 239433
• ClinVar RCV Id: RCV000229109 ; RCV000567446 ; RCV001818605 ; RCV002273996 ; RCV003475061 ; RCV003998858
• dbSNP Id: rs150437793
• ExAC: 1:17354254 C / T
• gnomAD v2: 1-17354254-C-T
• gnomAD v3: 1-17027759-C-T
• gnomAD v4: 1-17027759-C-T
• MyVariant Identifiers: chr1:g.17354254C>T (hg19) ; chr1:g.17027759C>T (hg38)
• PubMed: PMID:23175444 ; PMID:25595276 ; PMID:25791839

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027759C>T , CM000663.2:g.17027759C>T	GRCh38
NC_000001.10:g.17354254C>T , CM000663.1:g.17354254C>T	GRCh37
NC_000001.9:g.17226841C>T	NCBI36
NG_012340.1:g.31412G>A , LRG_316:g.31412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.359G>A	ENSP00000481376.2:p.Arg120His
ENST00000491274.6:c.488G>A	ENSP00000480482.2:p.Arg163His
ENST00000375499.8:c.530G>A MANE Select	ENSP00000364649.3:p.Arg177His
ENST00000375499.7:c.530G>A	ENSP00000364649.3:p.Arg177His
ENST00000463045.2:c.359G>A	ENSP00000481376.1:p.Arg120His
ENST00000475506.1:n.447G>A
ENST00000485515.5:n.464G>A
ENST00000491274.5:c.488G>A	ENSP00000480482.1:p.Arg163His
NM_003000.2:c.530G>A , LRG_316t1:c.530G>A	NP_002991.2:p.Arg177His
NM_003000.3:c.530G>A MANE Select	NP_002991.2:p.Arg177His