Canonical Allele Identifier: CA338270470
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 528743
ClinVar RCV Id: RCV000633971
dbSNP Id: rs1553177288

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022712C>T , CM000663.2:g.17022712C>T GRCh38
NC_000001.10:g.17349207C>T , CM000663.1:g.17349207C>T GRCh37
NC_000001.9:g.17221794C>T NCBI36
NG_012340.1:g.36459G>A , LRG_316:g.36459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.490G>A ENSP00000481376.2:p.Asp164Asn
ENST00000491274.6:c.619G>A ENSP00000480482.2:p.Asp207Asn
ENST00000375499.8:c.661G>A MANE Select ENSP00000364649.3:p.Asp221Asn
ENST00000375499.7:c.661G>A ENSP00000364649.3:p.Asp221Asn
ENST00000475049.5:n.86G>A
ENST00000485092.5:n.325G>A
ENST00000485515.5:n.595G>A
NM_003000.2:c.661G>A , LRG_316t1:c.661G>A NP_002991.2:p.Asp221Asn
NM_003000.3:c.661G>A MANE Select NP_002991.2:p.Asp221Asn