Canonical Allele Identifier: CA338272583

Gene: SDHB

Linked Data

• ClinVar Variation Id: 3069734
• ClinVar RCV Id: RCV004009766
• MyVariant Identifiers: chr1:g.17354273G>C (hg19) ; chr1:g.17027778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027778G>C , CM000663.2:g.17027778G>C	GRCh38
NC_000001.10:g.17354273G>C , CM000663.1:g.17354273G>C	GRCh37
NC_000001.9:g.17226860G>C	NCBI36
NG_012340.1:g.31393C>G , LRG_316:g.31393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.340C>G	ENSP00000481376.2:p.Leu114Val
ENST00000491274.6:c.469C>G	ENSP00000480482.2:p.Leu157Val
ENST00000375499.8:c.511C>G MANE Select	ENSP00000364649.3:p.Leu171Val
ENST00000375499.7:c.511C>G	ENSP00000364649.3:p.Leu171Val
ENST00000463045.2:c.340C>G	ENSP00000481376.1:p.Leu114Val
ENST00000475506.1:n.428C>G
ENST00000485515.5:n.445C>G
ENST00000491274.5:c.469C>G	ENSP00000480482.1:p.Leu157Val
NM_003000.2:c.511C>G , LRG_316t1:c.511C>G	NP_002991.2:p.Leu171Val
NM_003000.3:c.511C>G MANE Select	NP_002991.2:p.Leu171Val