Canonical Allele Identifier: CA089551

Gene: SDHB

Linked Data

• ClinVar Variation Id: 949539
• ClinVar RCV Id: RCV001221013 ; RCV002447113
• dbSNP Id: rs771524558
• ExAC: 1:17359606 T / A
• gnomAD v2: 1-17359606-T-A
• gnomAD v4: 1-17033111-T-A
• MyVariant Identifiers: chr1:g.17359606T>A (hg19) ; chr1:g.17033111T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033111T>A , CM000663.2:g.17033111T>A	GRCh38
NC_000001.10:g.17359606T>A , CM000663.1:g.17359606T>A	GRCh37
NC_000001.9:g.17232193T>A	NCBI36
NG_012340.1:g.26060A>T , LRG_316:g.26060A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.64A>T	ENSP00000481376.2:p.Ile22Phe
ENST00000491274.6:c.193A>T	ENSP00000480482.2:p.Ile65Phe
ENST00000375499.8:c.235A>T MANE Select	ENSP00000364649.3:p.Ile79Phe
ENST00000375499.7:c.235A>T	ENSP00000364649.3:p.Ile79Phe
ENST00000463045.2:c.64A>T	ENSP00000481376.1:p.Ile22Phe
ENST00000466613.2:n.247A>T
ENST00000475506.1:n.152A>T
ENST00000485515.5:n.223A>T
ENST00000491274.5:c.193A>T	ENSP00000480482.1:p.Ile65Phe
NM_003000.2:c.235A>T , LRG_316t1:c.235A>T	NP_002991.2:p.Ile79Phe
NM_003000.3:c.235A>T MANE Select	NP_002991.2:p.Ile79Phe