Canonical Allele Identifier: CA089568

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2063307
• ClinVar RCV Id: RCV002948357
• dbSNP Id: rs769089471
• ExAC: 1:17355244 C / T
• gnomAD v2: 1-17355244-C-T
• gnomAD v4: 1-17028749-C-T
• MyVariant Identifiers: chr1:g.17355244C>T (hg19) ; chr1:g.17028749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028749C>T , CM000663.2:g.17028749C>T	GRCh38
NC_000001.10:g.17355244C>T , CM000663.1:g.17355244C>T	GRCh37
NC_000001.9:g.17227831C>T	NCBI36
NG_012340.1:g.30422G>A , LRG_316:g.30422G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.116-13G>A	ENSP00000481376.2:n.116-13G>A
ENST00000491274.6:c.245-13G>A	ENSP00000480482.2:n.245-13G>A
ENST00000375499.8:c.287-13G>A MANE Select	ENSP00000364649.3:n.287-13G>A
ENST00000375499.7:c.287-13G>A	ENSP00000364649.3:n.287-13G>A
ENST00000463045.2:c.116-13G>A	ENSP00000481376.1:n.116-13G>A
ENST00000475506.1:n.204-13G>A
ENST00000485515.5:n.275-13G>A
ENST00000491274.5:c.245-13G>A	ENSP00000480482.1:n.245-13G>A
NM_003000.2:c.287-13G>A , LRG_316t1:c.287-13G>A	NP_002991.2:n.287-13G>A
NM_003000.3:c.287-13G>A MANE Select	NP_002991.2:n.287-13G>A