Canonical Allele Identifier: CA338228461

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1508537
• ClinVar RCV Id: RCV002016177 ; RCV004017890
• dbSNP Id: rs1474282888
• gnomAD v2: 1-17371385-T-A
• gnomAD v4: 1-17044890-T-A
• MyVariant Identifiers: chr1:g.17371385T>A (hg19) ; chr1:g.17044890T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044890T>A , CM000663.2:g.17044890T>A	GRCh38
NC_000001.10:g.17371385T>A , CM000663.1:g.17371385T>A	GRCh37
NC_000001.9:g.17243972T>A	NCBI36
NG_012340.1:g.14281A>T , LRG_316:g.14281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-99-2A>T	ENSP00000481376.2:n.-99-2A>T
ENST00000491274.6:c.31-2A>T	ENSP00000480482.2:n.31-2A>T
ENST00000375499.8:c.73-2A>T MANE Select	ENSP00000364649.3:n.73-2A>T
ENST00000375499.7:c.73-2A>T	ENSP00000364649.3:n.73-2A>T
ENST00000463045.2:c.-99-2A>T	ENSP00000481376.1:n.-99-2A>T
ENST00000466613.2:n.85-2A>T
ENST00000485515.5:n.61-2A>T
ENST00000491274.5:c.31-2A>T	ENSP00000480482.1:n.31-2A>T
NM_003000.2:c.73-2A>T , LRG_316t1:c.73-2A>T	NP_002991.2:n.73-2A>T
NM_003000.3:c.73-2A>T MANE Select	NP_002991.2:n.73-2A>T