Canonical Allele Identifier: CA890972331

Gene: SDHB

Linked Data

• dbSNP Id: rs1471233290
• gnomAD v3: 1-17028357-T-C
• gnomAD v4: 1-17028357-T-C
• MyVariant Identifiers: chr1:g.17354852T>C (hg19) ; chr1:g.17028357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028357T>C , CM000663.2:g.17028357T>C	GRCh38
NC_000001.10:g.17354852T>C , CM000663.1:g.17354852T>C	GRCh37
NC_000001.9:g.17227439T>C	NCBI36
NG_012340.1:g.30814A>G , LRG_316:g.30814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+243A>G	ENSP00000481376.2:n.252+243A>G
ENST00000491274.6:c.381+243A>G	ENSP00000480482.2:n.381+243A>G
ENST00000375499.8:c.423+243A>G MANE Select	ENSP00000364649.3:n.423+243A>G
ENST00000375499.7:c.423+243A>G	ENSP00000364649.3:n.423+243A>G
ENST00000463045.2:c.252+243A>G	ENSP00000481376.1:n.252+243A>G
ENST00000475506.1:n.340+243A>G
ENST00000485515.5:n.357+297A>G
ENST00000491274.5:c.381+243A>G	ENSP00000480482.1:n.381+243A>G
NM_003000.2:c.423+243A>G , LRG_316t1:c.423+243A>G	NP_002991.2:n.423+243A>G
NM_003000.3:c.423+243A>G MANE Select	NP_002991.2:n.423+243A>G