Canonical Allele Identifier: CA089703
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412491
ClinVar RCV Id: RCV000475294 RCV000986260 RCV002365671 RCV003228936 RCV004002006
dbSNP Id: rs747518441
ExAC: 1:17349218 C / T
gnomAD v2: 1-17349218-C-T
gnomAD v3: 1-17022723-C-T
gnomAD v4: 1-17022723-C-T
MyVariant Identifiers: chr1:g.17349218C>T (hg19) chr1:g.17022723C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022723C>T , CM000663.2:g.17022723C>T GRCh38
NC_000001.10:g.17349218C>T , CM000663.1:g.17349218C>T GRCh37
NC_000001.9:g.17221805C>T NCBI36
NG_012340.1:g.36448G>A , LRG_316:g.36448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.479G>A ENSP00000481376.2:p.Arg160His
ENST00000491274.6:c.608G>A ENSP00000480482.2:p.Arg203His
ENST00000375499.8:c.650G>A MANE Select ENSP00000364649.3:p.Arg217His
ENST00000375499.7:c.650G>A ENSP00000364649.3:p.Arg217His
ENST00000475049.5:n.75G>A
ENST00000485092.5:n.314G>A
ENST00000485515.5:n.584G>A
NM_003000.2:c.650G>A , LRG_316t1:c.650G>A NP_002991.2:p.Arg217His
NM_003000.3:c.650G>A MANE Select NP_002991.2:p.Arg217His
Search 100 bp 5'
Search 100 bp 3'