Canonical Allele Identifier: CA089640

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412469
• ClinVar RCV Id: RCV000470780 ; RCV000564144 ; RCV000757752 ; RCV004001998
• dbSNP Id: rs149091125
• ExAC: 1:17354255 G / A
• gnomAD v2: 1-17354255-G-A
• gnomAD v3: 1-17027760-G-A
• gnomAD v4: 1-17027760-G-A
• MyVariant Identifiers: chr1:g.17354255G>A (hg19) ; chr1:g.17027760G>A (hg38)
• PubMed: PMID:23512077

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027760G>A , CM000663.2:g.17027760G>A	GRCh38
NC_000001.10:g.17354255G>A , CM000663.1:g.17354255G>A	GRCh37
NC_000001.9:g.17226842G>A	NCBI36
NG_012340.1:g.31411C>T , LRG_316:g.31411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.358C>T	ENSP00000481376.2:p.Arg120Cys
ENST00000491274.6:c.487C>T	ENSP00000480482.2:p.Arg163Cys
ENST00000375499.8:c.529C>T MANE Select	ENSP00000364649.3:p.Arg177Cys
ENST00000375499.7:c.529C>T	ENSP00000364649.3:p.Arg177Cys
ENST00000463045.2:c.358C>T	ENSP00000481376.1:p.Arg120Cys
ENST00000475506.1:n.446C>T
ENST00000485515.5:n.463C>T
ENST00000491274.5:c.487C>T	ENSP00000480482.1:p.Arg163Cys
NM_003000.2:c.529C>T , LRG_316t1:c.529C>T	NP_002991.2:p.Arg177Cys
NM_003000.3:c.529C>T MANE Select	NP_002991.2:p.Arg177Cys