Canonical Allele Identifier: CA16609927

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412473
• ClinVar RCV Id: RCV000464464 ; RCV001025277
• dbSNP Id: rs1060503761
• gnomAD v2: 1-17349224-G-A
• gnomAD v3: 1-17022729-G-A
• gnomAD v4: 1-17022729-G-A
• MyVariant Identifiers: chr1:g.17349224G>A (hg19) ; chr1:g.17022729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022729G>A , CM000663.2:g.17022729G>A	GRCh38
NC_000001.10:g.17349224G>A , CM000663.1:g.17349224G>A	GRCh37
NC_000001.9:g.17221811G>A	NCBI36
NG_012340.1:g.36442C>T , LRG_316:g.36442C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.473C>T	ENSP00000481376.2:p.Ala158Val
ENST00000491274.6:c.602C>T	ENSP00000480482.2:p.Ala201Val
ENST00000375499.8:c.644C>T MANE Select	ENSP00000364649.3:p.Ala215Val
ENST00000375499.7:c.644C>T	ENSP00000364649.3:p.Ala215Val
ENST00000475049.5:n.69C>T
ENST00000485092.5:n.308C>T
ENST00000485515.5:n.578C>T
NM_003000.2:c.644C>T , LRG_316t1:c.644C>T	NP_002991.2:p.Ala215Val
NM_003000.3:c.644C>T MANE Select	NP_002991.2:p.Ala215Val