Canonical Allele Identifier: CA16609928

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412493
• ClinVar RCV Id: RCV000469213 ; RCV003168872 ; RCV004017631
• dbSNP Id: rs781590955
• MyVariant Identifiers: chr1:g.17350469T>C (hg19) ; chr1:g.17023974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17023974T>C , CM000663.2:g.17023974T>C	GRCh38
NC_000001.10:g.17350469T>C , CM000663.1:g.17350469T>C	GRCh37
NC_000001.9:g.17223056T>C	NCBI36
NG_012340.1:g.35197A>G , LRG_316:g.35197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.470A>G	ENSP00000481376.2:p.Gln157Arg
ENST00000491274.6:c.599A>G	ENSP00000480482.2:p.Gln200Arg
ENST00000375499.8:c.641A>G MANE Select	ENSP00000364649.3:p.Gln214Arg
ENST00000375499.7:c.641A>G	ENSP00000364649.3:p.Gln214Arg
ENST00000485515.5:n.575A>G
ENST00000491274.5:c.599A>G	ENSP00000480482.1:p.Gln200Arg
NM_003000.2:c.641A>G , LRG_316t1:c.641A>G	NP_002991.2:p.Gln214Arg
NM_003000.3:c.641A>G MANE Select	NP_002991.2:p.Gln214Arg