Canonical Allele Identifier: CA338274995

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1052515
• ClinVar RCV Id: RCV001360715 ; RCV002322317
• dbSNP Id: rs1356656612
• gnomAD v4: 1-17028710-T-C
• MyVariant Identifiers: chr1:g.17355205T>C (hg19) ; chr1:g.17028710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028710T>C , CM000663.2:g.17028710T>C	GRCh38
NC_000001.10:g.17355205T>C , CM000663.1:g.17355205T>C	GRCh37
NC_000001.9:g.17227792T>C	NCBI36
NG_012340.1:g.30461A>G , LRG_316:g.30461A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.142A>G	ENSP00000481376.2:p.Ile48Val
ENST00000491274.6:c.271A>G	ENSP00000480482.2:p.Ile91Val
ENST00000375499.8:c.313A>G MANE Select	ENSP00000364649.3:p.Ile105Val
ENST00000375499.7:c.313A>G	ENSP00000364649.3:p.Ile105Val
ENST00000463045.2:c.142A>G	ENSP00000481376.1:p.Ile48Val
ENST00000475506.1:n.230A>G
ENST00000485515.5:n.301A>G
ENST00000491274.5:c.271A>G	ENSP00000480482.1:p.Ile91Val
NM_003000.2:c.313A>G , LRG_316t1:c.313A>G	NP_002991.2:p.Ile105Val
NM_003000.3:c.313A>G MANE Select	NP_002991.2:p.Ile105Val