Canonical Allele Identifier: CA089742

Gene: SDHB

Linked Data

• ClinVar Variation Id: 459169
• ClinVar RCV Id: RCV000543096 ; RCV000575911 ; RCV003237901 ; RCV003476240 ; RCV004537908
• dbSNP Id: rs200896502
• ExAC: 1:17349129 T / C
• gnomAD v2: 1-17349129-T-C
• gnomAD v3: 1-17022634-T-C
• gnomAD v4: 1-17022634-T-C
• MyVariant Identifiers: chr1:g.17349129T>C (hg19) ; chr1:g.17022634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022634T>C , CM000663.2:g.17022634T>C	GRCh38
NC_000001.10:g.17349129T>C , CM000663.1:g.17349129T>C	GRCh37
NC_000001.9:g.17221716T>C	NCBI36
NG_012340.1:g.36537A>G , LRG_316:g.36537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.568A>G	ENSP00000481376.2:p.Met190Val
ENST00000491274.6:c.697A>G	ENSP00000480482.2:p.Met233Val
ENST00000375499.8:c.739A>G MANE Select	ENSP00000364649.3:p.Met247Val
ENST00000375499.7:c.739A>G	ENSP00000364649.3:p.Met247Val
ENST00000475049.5:n.164A>G
ENST00000485092.5:n.403A>G
ENST00000485515.5:n.673A>G
NM_003000.2:c.739A>G , LRG_316t1:c.739A>G	NP_002991.2:p.Met247Val
NM_003000.3:c.739A>G MANE Select	NP_002991.2:p.Met247Val