Canonical Allele Identifier: CA338272931

Gene: SDHB

Linked Data

• ClinVar Variation Id: 834641
• ClinVar RCV Id: RCV001035371
• dbSNP Id: rs2077999812
• MyVariant Identifiers: chr1:g.17354314A>G (hg19) ; chr1:g.17027819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027819A>G , CM000663.2:g.17027819A>G	GRCh38
NC_000001.10:g.17354314A>G , CM000663.1:g.17354314A>G	GRCh37
NC_000001.9:g.17226901A>G	NCBI36
NG_012340.1:g.31352T>C , LRG_316:g.31352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.299T>C	ENSP00000481376.2:p.Leu100Ser
ENST00000491274.6:c.428T>C	ENSP00000480482.2:p.Leu143Ser
ENST00000375499.8:c.470T>C MANE Select	ENSP00000364649.3:p.Leu157Ser
ENST00000375499.7:c.470T>C	ENSP00000364649.3:p.Leu157Ser
ENST00000463045.2:c.299T>C	ENSP00000481376.1:p.Leu100Ser
ENST00000475506.1:n.387T>C
ENST00000485515.5:n.404T>C
ENST00000491274.5:c.428T>C	ENSP00000480482.1:p.Leu143Ser
NM_003000.2:c.470T>C , LRG_316t1:c.470T>C	NP_002991.2:p.Leu157Ser
NM_003000.3:c.470T>C MANE Select	NP_002991.2:p.Leu157Ser