Canonical Allele Identifier: CA016128

Gene: SDHB

Linked Data

• ClinVar Variation Id: 161385
• ClinVar RCV Id: RCV000148869 ; RCV000795778 ; RCV001026110 ; RCV001775634
• dbSNP Id: rs201098090
• ExAC: 1:17349152 G / C
• gnomAD v2: 1-17349152-G-C
• gnomAD v3: 1-17022657-G-C
• gnomAD v4: 1-17022657-G-C
• MyVariant Identifiers: chr1:g.17349152G>C (hg19) ; chr1:g.17022657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022657G>C , CM000663.2:g.17022657G>C	GRCh38
NC_000001.10:g.17349152G>C , CM000663.1:g.17349152G>C	GRCh37
NC_000001.9:g.17221739G>C	NCBI36
NG_012340.1:g.36514C>G , LRG_316:g.36514C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.545C>G	ENSP00000481376.2:p.Ser182Cys
ENST00000491274.6:c.674C>G	ENSP00000480482.2:p.Ser225Cys
ENST00000375499.8:c.716C>G MANE Select	ENSP00000364649.3:p.Ser239Cys
ENST00000375499.7:c.716C>G	ENSP00000364649.3:p.Ser239Cys
ENST00000475049.5:n.141C>G
ENST00000485092.5:n.380C>G
ENST00000485515.5:n.650C>G
NM_003000.2:c.716C>G , LRG_316t1:c.716C>G	NP_002991.2:p.Ser239Cys
NM_003000.3:c.716C>G MANE Select	NP_002991.2:p.Ser239Cys