Canonical Allele Identifier: CA089712

Gene: SDHB

Linked Data

• ClinVar Variation Id: 293809
• ClinVar RCV Id: RCV000279182 ; RCV000317866 ; RCV000568441 ; RCV000633984 ; RCV002061161 ; RCV003316465
• dbSNP Id: rs201728852
• ExAC: 1:17349168 G / A
• gnomAD v2: 1-17349168-G-A
• gnomAD v3: 1-17022673-G-A
• gnomAD v4: 1-17022673-G-A
• MyVariant Identifiers: chr1:g.17349168G>A (hg19) ; chr1:g.17022673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022673G>A , CM000663.2:g.17022673G>A	GRCh38
NC_000001.10:g.17349168G>A , CM000663.1:g.17349168G>A	GRCh37
NC_000001.9:g.17221755G>A	NCBI36
NG_012340.1:g.36498C>T , LRG_316:g.36498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.529C>T	ENSP00000481376.2:p.Leu177=
ENST00000491274.6:c.658C>T	ENSP00000480482.2:p.Leu220=
ENST00000375499.8:c.700C>T MANE Select	ENSP00000364649.3:p.Leu234=
ENST00000375499.7:c.700C>T	ENSP00000364649.3:p.Leu234=
ENST00000475049.5:n.125C>T
ENST00000485092.5:n.364C>T
ENST00000485515.5:n.634C>T
NM_003000.2:c.700C>T , LRG_316t1:c.700C>T	NP_002991.2:p.Leu234=
NM_003000.3:c.700C>T MANE Select	NP_002991.2:p.Leu234=