Canonical Allele Identifier: CA18610406

Gene: SDHB

Linked Data

• ClinVar Variation Id: 995648
• ClinVar RCV Id: RCV001810677 ; RCV002070106
• dbSNP Id: rs927103985
• gnomAD v2: 1-17371394-T-G
• gnomAD v3: 1-17044899-T-G
• gnomAD v4: 1-17044899-T-G
• MyVariant Identifiers: chr1:g.17371394T>G (hg19) ; chr1:g.17044899T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044899T>G , CM000663.2:g.17044899T>G	GRCh38
NC_000001.10:g.17371394T>G , CM000663.1:g.17371394T>G	GRCh37
NC_000001.9:g.17243981T>G	NCBI36
NG_012340.1:g.14272A>C , LRG_316:g.14272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-99-11A>C	ENSP00000481376.2:n.-99-11A>C
ENST00000491274.6:c.31-11A>C	ENSP00000480482.2:n.31-11A>C
ENST00000375499.8:c.73-11A>C MANE Select	ENSP00000364649.3:n.73-11A>C
ENST00000375499.7:c.73-11A>C	ENSP00000364649.3:n.73-11A>C
ENST00000463045.2:c.-99-11A>C	ENSP00000481376.1:n.-99-11A>C
ENST00000466613.2:n.85-11A>C
ENST00000485515.5:n.61-11A>C
ENST00000491274.5:c.31-11A>C	ENSP00000480482.1:n.31-11A>C
NM_003000.2:c.73-11A>C , LRG_316t1:c.73-11A>C	NP_002991.2:n.73-11A>C
NM_003000.3:c.73-11A>C MANE Select	NP_002991.2:n.73-11A>C