Canonical Allele Identifier: CA338270063

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1023033
• ClinVar RCV Id: RCV001323020
• dbSNP Id: rs2077968083
• MyVariant Identifiers: chr1:g.17349125T>C (hg19) ; chr1:g.17022630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022630T>C , CM000663.2:g.17022630T>C	GRCh38
NC_000001.10:g.17349125T>C , CM000663.1:g.17349125T>C	GRCh37
NC_000001.9:g.17221712T>C	NCBI36
NG_012340.1:g.36541A>G , LRG_316:g.36541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.572A>G	ENSP00000481376.2:p.Asn191Ser
ENST00000491274.6:c.701A>G	ENSP00000480482.2:p.Asn234Ser
ENST00000375499.8:c.743A>G MANE Select	ENSP00000364649.3:p.Asn248Ser
ENST00000375499.7:c.743A>G	ENSP00000364649.3:p.Asn248Ser
ENST00000475049.5:n.168A>G
ENST00000485092.5:n.407A>G
ENST00000485515.5:n.677A>G
NM_003000.2:c.743A>G , LRG_316t1:c.743A>G	NP_002991.2:p.Asn248Ser
NM_003000.3:c.743A>G MANE Select	NP_002991.2:p.Asn248Ser