Canonical Allele Identifier: CA089751

Gene: SDHB

Linked Data

• ClinVar Variation Id: 224008
• ClinVar RCV Id: RCV000208883 ; RCV002267948
• dbSNP Id: rs41273161
• ExAC: 1:17349074 C / T
• gnomAD v2: 1-17349074-C-T
• gnomAD v3: 1-17022579-C-T
• gnomAD v4: 1-17022579-C-T
• MyVariant Identifiers: chr1:g.17349074C>T (hg19) ; chr1:g.17022579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022579C>T , CM000663.2:g.17022579C>T	GRCh38
NC_000001.10:g.17349074C>T , CM000663.1:g.17349074C>T	GRCh37
NC_000001.9:g.17221661C>T	NCBI36
NG_012340.1:g.36592G>A , LRG_316:g.36592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+29G>A	ENSP00000481376.2:n.594+29G>A
ENST00000491274.6:c.723+29G>A	ENSP00000480482.2:n.723+29G>A
ENST00000375499.8:c.765+29G>A MANE Select	ENSP00000364649.3:n.765+29G>A
ENST00000375499.7:c.765+29G>A	ENSP00000364649.3:n.765+29G>A
ENST00000475049.5:n.190+29G>A
ENST00000485092.5:n.429+29G>A
NM_003000.2:c.765+29G>A , LRG_316t1:c.765+29G>A	NP_002991.2:n.765+29G>A
NM_003000.3:c.765+29G>A MANE Select	NP_002991.2:n.765+29G>A