Canonical Allele Identifier: CA338272662

Gene: SDHB

Linked Data

• ClinVar Variation Id: 468234
• ClinVar RCV Id: RCV001383002 ; RCV002350305
• dbSNP Id: rs1553177677
• MyVariant Identifiers: chr1:g.17354282G>A (hg19) ; chr1:g.17027787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027787G>A , CM000663.2:g.17027787G>A	GRCh38
NC_000001.10:g.17354282G>A , CM000663.1:g.17354282G>A	GRCh37
NC_000001.9:g.17226869G>A	NCBI36
NG_012340.1:g.31384C>T , LRG_316:g.31384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.331C>T	ENSP00000481376.2:p.Gln111Ter
ENST00000491274.6:c.460C>T	ENSP00000480482.2:p.Gln154Ter
ENST00000375499.8:c.502C>T MANE Select	ENSP00000364649.3:p.Gln168Ter
ENST00000375499.7:c.502C>T	ENSP00000364649.3:p.Gln168Ter
ENST00000463045.2:c.331C>T	ENSP00000481376.1:p.Gln111Ter
ENST00000475506.1:n.419C>T
ENST00000485515.5:n.436C>T
ENST00000491274.5:c.460C>T	ENSP00000480482.1:p.Gln154Ter
NM_003000.2:c.502C>T , LRG_316t1:c.502C>T	NP_002991.2:p.Gln168Ter
NM_003000.3:c.502C>T MANE Select	NP_002991.2:p.Gln168Ter