Canonical Allele Identifier: CA338270053

Gene: SDHB

Linked Data

• ClinVar Variation Id: 428929
• ClinVar RCV Id: RCV000492396 ; RCV001058694 ; RCV002250641
• dbSNP Id: rs1131691058
• gnomAD v3: 1-17022629-G-C
• gnomAD v4: 1-17022629-G-C
• MyVariant Identifiers: chr1:g.17349124G>C (hg19) ; chr1:g.17022629G>C (hg38)
• PubMed: PMID:18551016

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022629G>C , CM000663.2:g.17022629G>C	GRCh38
NC_000001.10:g.17349124G>C , CM000663.1:g.17349124G>C	GRCh37
NC_000001.9:g.17221711G>C	NCBI36
NG_012340.1:g.36542C>G , LRG_316:g.36542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.573C>G	ENSP00000481376.2:p.Asn191Lys
ENST00000491274.6:c.702C>G	ENSP00000480482.2:p.Asn234Lys
ENST00000375499.8:c.744C>G MANE Select	ENSP00000364649.3:p.Asn248Lys
ENST00000375499.7:c.744C>G	ENSP00000364649.3:p.Asn248Lys
ENST00000475049.5:n.169C>G
ENST00000485092.5:n.408C>G
ENST00000485515.5:n.678C>G
NM_003000.2:c.744C>G , LRG_316t1:c.744C>G	NP_002991.2:p.Asn248Lys
NM_003000.3:c.744C>G MANE Select	NP_002991.2:p.Asn248Lys