Canonical Allele Identifier: CA16609936

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412471
• ClinVar RCV Id: RCV000469670 ; RCV002341058 ; RCV004001999
• dbSNP Id: rs1060503760
• gnomAD v4: 1-17027792-C-T
• MyVariant Identifiers: chr1:g.17354287C>T (hg19) ; chr1:g.17027792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027792C>T , CM000663.2:g.17027792C>T	GRCh38
NC_000001.10:g.17354287C>T , CM000663.1:g.17354287C>T	GRCh37
NC_000001.9:g.17226874C>T	NCBI36
NG_012340.1:g.31379G>A , LRG_316:g.31379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.326G>A	ENSP00000481376.2:p.Gly109Asp
ENST00000491274.6:c.455G>A	ENSP00000480482.2:p.Gly152Asp
ENST00000375499.8:c.497G>A MANE Select	ENSP00000364649.3:p.Gly166Asp
ENST00000375499.7:c.497G>A	ENSP00000364649.3:p.Gly166Asp
ENST00000463045.2:c.326G>A	ENSP00000481376.1:p.Gly109Asp
ENST00000475506.1:n.414G>A
ENST00000485515.5:n.431G>A
ENST00000491274.5:c.455G>A	ENSP00000480482.1:p.Gly152Asp
NM_003000.2:c.497G>A , LRG_316t1:c.497G>A	NP_002991.2:p.Gly166Asp
NM_003000.3:c.497G>A MANE Select	NP_002991.2:p.Gly166Asp