Canonical Allele Identifier: CA338276588

Gene: SDHB

Linked Data

• ClinVar Variation Id: 486421
• ClinVar RCV Id: RCV000562889 ; RCV003767230
• dbSNP Id: rs1553178046
• MyVariant Identifiers: chr1:g.17359612T>C (hg19) ; chr1:g.17033117T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033117T>C , CM000663.2:g.17033117T>C	GRCh38
NC_000001.10:g.17359612T>C , CM000663.1:g.17359612T>C	GRCh37
NC_000001.9:g.17232199T>C	NCBI36
NG_012340.1:g.26054A>G , LRG_316:g.26054A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.58A>G	ENSP00000481376.2:p.Ile20Val
ENST00000491274.6:c.187A>G	ENSP00000480482.2:p.Ile63Val
ENST00000375499.8:c.229A>G MANE Select	ENSP00000364649.3:p.Ile77Val
ENST00000375499.7:c.229A>G	ENSP00000364649.3:p.Ile77Val
ENST00000463045.2:c.58A>G	ENSP00000481376.1:p.Ile20Val
ENST00000466613.2:n.241A>G
ENST00000475506.1:n.146A>G
ENST00000485515.5:n.217A>G
ENST00000491274.5:c.187A>G	ENSP00000480482.1:p.Ile63Val
NM_003000.2:c.229A>G , LRG_316t1:c.229A>G	NP_002991.2:p.Ile77Val
NM_003000.3:c.229A>G MANE Select	NP_002991.2:p.Ile77Val