Canonical Allele Identifier: CA18669754

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1126499
• ClinVar RCV Id: RCV001458553 ; RCV003320838
• dbSNP Id: rs776971836
• gnomAD v4: 1-17033112-C-T
• MyVariant Identifiers: chr1:g.17359607C>T (hg19) ; chr1:g.17033112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033112C>T , CM000663.2:g.17033112C>T	GRCh38
NC_000001.10:g.17359607C>T , CM000663.1:g.17359607C>T	GRCh37
NC_000001.9:g.17232194C>T	NCBI36
NG_012340.1:g.26059G>A , LRG_316:g.26059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.63G>A	ENSP00000481376.2:p.Lys21=
ENST00000491274.6:c.192G>A	ENSP00000480482.2:p.Lys64=
ENST00000375499.8:c.234G>A MANE Select	ENSP00000364649.3:p.Lys78=
ENST00000375499.7:c.234G>A	ENSP00000364649.3:p.Lys78=
ENST00000463045.2:c.63G>A	ENSP00000481376.1:p.Lys21=
ENST00000466613.2:n.246G>A
ENST00000475506.1:n.151G>A
ENST00000485515.5:n.222G>A
ENST00000491274.5:c.192G>A	ENSP00000480482.1:p.Lys64=
NM_003000.2:c.234G>A , LRG_316t1:c.234G>A	NP_002991.2:p.Lys78=
NM_003000.3:c.234G>A MANE Select	NP_002991.2:p.Lys78=