Canonical Allele Identifier: CA16609907
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412460
ClinVar RCV Id: RCV000473417
dbSNP Id: rs1060503755

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17018922T>A , CM000663.2:g.17018922T>A GRCh38
NC_000001.10:g.17345417T>A , CM000663.1:g.17345417T>A GRCh37
NC_000001.9:g.17218004T>A NCBI36
NG_012340.1:g.40249A>T , LRG_316:g.40249A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.631A>T ENSP00000481376.2:p.Lys211Ter
ENST00000491274.6:c.760A>T ENSP00000480482.2:p.Lys254Ter
ENST00000375499.8:c.802A>T MANE Select ENSP00000364649.3:p.Lys268Ter
ENST00000375499.7:c.802A>T ENSP00000364649.3:p.Lys268Ter
ENST00000475049.5:n.227A>T
ENST00000485092.5:n.466A>T
NM_003000.2:c.802A>T , LRG_316t1:c.802A>T NP_002991.2:p.Lys268Ter
NM_003000.3:c.802A>T MANE Select NP_002991.2:p.Lys268Ter