Canonical Allele Identifier: CA089608

Gene: SDHB

Linked Data

• ClinVar Variation Id: 528747
• ClinVar RCV Id: RCV000633975 ; RCV002331129
• dbSNP Id: rs764089231
• ExAC: 1:17380474 G / A
• gnomAD v2: 1-17380474-G-A
• gnomAD v3: 1-17053979-G-A
• gnomAD v4: 1-17053979-G-A
• MyVariant Identifiers: chr1:g.17380474G>A (hg19) ; chr1:g.17053979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17053979G>A , CM000663.2:g.17053979G>A	GRCh38
NC_000001.10:g.17380474G>A , CM000663.1:g.17380474G>A	GRCh37
NC_000001.9:g.17253061G>A	NCBI36
NG_012340.1:g.5192C>T , LRG_316:g.5192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375499.8:c.41C>T MANE Select	ENSP00000364649.3:p.Pro14Leu
ENST00000375499.7:c.41C>T	ENSP00000364649.3:p.Pro14Leu
ENST00000466613.2:n.53C>T
ENST00000485515.5:n.29C>T
NM_003000.2:c.41C>T , LRG_316t1:c.41C>T	NP_002991.2:p.Pro14Leu
NM_003000.3:c.41C>T MANE Select	NP_002991.2:p.Pro14Leu