Canonical Allele Identifier: CA089713

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1756775
• ClinVar RCV Id: RCV002364917 ; RCV003098452
• dbSNP Id: rs370397369
• ExAC: 1:17349166 C / T
• gnomAD v2: 1-17349166-C-T
• gnomAD v3: 1-17022671-C-T
• gnomAD v4: 1-17022671-C-T
• MyVariant Identifiers: chr1:g.17349166C>T (hg19) ; chr1:g.17022671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022671C>T , CM000663.2:g.17022671C>T	GRCh38
NC_000001.10:g.17349166C>T , CM000663.1:g.17349166C>T	GRCh37
NC_000001.9:g.17221753C>T	NCBI36
NG_012340.1:g.36500G>A , LRG_316:g.36500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.531G>A	ENSP00000481376.2:p.Leu177=
ENST00000491274.6:c.660G>A	ENSP00000480482.2:p.Leu220=
ENST00000375499.8:c.702G>A MANE Select	ENSP00000364649.3:p.Leu234=
ENST00000375499.7:c.702G>A	ENSP00000364649.3:p.Leu234=
ENST00000475049.5:n.127G>A
ENST00000485092.5:n.366G>A
ENST00000485515.5:n.636G>A
NM_003000.2:c.702G>A , LRG_316t1:c.702G>A	NP_002991.2:p.Leu234=
NM_003000.3:c.702G>A MANE Select	NP_002991.2:p.Leu234=