Canonical Allele Identifier: CA16609933
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 417299
dbSNP Id: rs1060505015
gnomAD v4: 1-17024027-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17024027G>A , CM000663.2:g.17024027G>A GRCh38
NC_000001.10:g.17350522G>A , CM000663.1:g.17350522G>A GRCh37
NC_000001.9:g.17223109G>A NCBI36
NG_012340.1:g.35144C>T , LRG_316:g.35144C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.417C>T ENSP00000481376.2:p.Cys139=
ENST00000491274.6:c.546C>T ENSP00000480482.2:p.Cys182=
ENST00000375499.8:c.588C>T MANE Select ENSP00000364649.3:p.Cys196=
ENST00000375499.7:c.588C>T ENSP00000364649.3:p.Cys196=
ENST00000485515.5:n.522C>T
ENST00000491274.5:c.546C>T ENSP00000480482.1:p.Cys182=
NM_003000.2:c.588C>T , LRG_316t1:c.588C>T NP_002991.2:p.Cys196=
NM_003000.3:c.588C>T MANE Select NP_002991.2:p.Cys196=