Canonical Allele Identifier: CA089691

Gene: SDHB

Linked Data

• ClinVar Variation Id: 653262
• ClinVar RCV Id: RCV000809006 ; RCV002363086
• dbSNP Id: rs755486893
• ExAC: 1:17350463 C / T
• gnomAD v2: 1-17350463-C-T
• gnomAD v4: 1-17023968-C-T
• MyVariant Identifiers: chr1:g.17350463C>T (hg19) ; chr1:g.17023968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17023968C>T , CM000663.2:g.17023968C>T	GRCh38
NC_000001.10:g.17350463C>T , CM000663.1:g.17350463C>T	GRCh37
NC_000001.9:g.17223050C>T	NCBI36
NG_012340.1:g.35203G>A , LRG_316:g.35203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.471+5G>A	ENSP00000481376.2:n.471+5G>A
ENST00000491274.6:c.600+5G>A	ENSP00000480482.2:n.600+5G>A
ENST00000375499.8:c.642+5G>A MANE Select	ENSP00000364649.3:n.642+5G>A
ENST00000375499.7:c.642+5G>A	ENSP00000364649.3:n.642+5G>A
ENST00000485515.5:n.576+5G>A
NM_003000.2:c.642+5G>A , LRG_316t1:c.642+5G>A	NP_002991.2:n.642+5G>A
NM_003000.3:c.642+5G>A MANE Select	NP_002991.2:n.642+5G>A