Canonical Allele Identifier: CA089716
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412475
ClinVar RCV Id: RCV000466110 RCV000570083 RCV001097530 RCV001099287 RCV003153648
dbSNP Id: rs201098090
ExAC: 1:17349152 G / A
gnomAD v2: 1-17349152-G-A
gnomAD v3: 1-17022657-G-A
gnomAD v4: 1-17022657-G-A
MyVariant Identifiers: chr1:g.17349152G>A (hg19) chr1:g.17022657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022657G>A , CM000663.2:g.17022657G>A GRCh38
NC_000001.10:g.17349152G>A , CM000663.1:g.17349152G>A GRCh37
NC_000001.9:g.17221739G>A NCBI36
NG_012340.1:g.36514C>T , LRG_316:g.36514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.545C>T ENSP00000481376.2:p.Ser182Phe
ENST00000491274.6:c.674C>T ENSP00000480482.2:p.Ser225Phe
ENST00000375499.8:c.716C>T MANE Select ENSP00000364649.3:p.Ser239Phe
ENST00000375499.7:c.716C>T ENSP00000364649.3:p.Ser239Phe
ENST00000475049.5:n.141C>T
ENST00000485092.5:n.380C>T
ENST00000485515.5:n.650C>T
NM_003000.2:c.716C>T , LRG_316t1:c.716C>T NP_002991.2:p.Ser239Phe
NM_003000.3:c.716C>T MANE Select NP_002991.2:p.Ser239Phe
Search 100 bp 5'
Search 100 bp 3'