Canonical Allele Identifier: CA089715

Gene: SDHB

Linked Data

• ClinVar Variation Id: 371795
• ClinVar RCV Id: RCV000412414 ; RCV000571866 ; RCV000465994 ; RCV001591047 ; RCV003153568
• dbSNP Id: rs186768244
• ExAC: 1:17349159 G / A
• gnomAD v2: 1-17349159-G-A
• gnomAD v3: 1-17022664-G-A
• gnomAD v4: 1-17022664-G-A
• MyVariant Identifiers: chr1:g.17349159G>A (hg19) ; chr1:g.17022664G>A (hg38)
• PubMed: PMID:11404820 ; PMID:23780556

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022664G>A , CM000663.2:g.17022664G>A	GRCh38
NC_000001.10:g.17349159G>A , CM000663.1:g.17349159G>A	GRCh37
NC_000001.9:g.17221746G>A	NCBI36
NG_012340.1:g.36507C>T , LRG_316:g.36507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.538C>T	ENSP00000481376.2:p.Pro180Ser
ENST00000491274.6:c.667C>T	ENSP00000480482.2:p.Pro223Ser
ENST00000375499.8:c.709C>T MANE Select	ENSP00000364649.3:p.Pro237Ser
ENST00000375499.7:c.709C>T	ENSP00000364649.3:p.Pro237Ser
ENST00000475049.5:n.134C>T
ENST00000485092.5:n.373C>T
ENST00000485515.5:n.643C>T
NM_003000.2:c.709C>T , LRG_316t1:c.709C>T	NP_002991.2:p.Pro237Ser
NM_003000.3:c.709C>T MANE Select	NP_002991.2:p.Pro237Ser