Canonical Allele Identifier: CA1156101832

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1591128
• ClinVar RCV Id: RCV002103977
• dbSNP Id: rs1570963404
• gnomAD v4: 1-17053940-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17053940G>A , CM000663.2:g.17053940G>A	GRCh38
NC_000001.10:g.17380435G>A , CM000663.1:g.17380435G>A	GRCh37
NC_000001.9:g.17253022G>A	NCBI36
NG_012340.1:g.5231C>T , LRG_316:g.5231C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375499.8:c.72+8C>T MANE Select	ENSP00000364649.3:n.72+8C>T
ENST00000375499.7:c.72+8C>T	ENSP00000364649.3:n.72+8C>T
ENST00000466613.2:n.84+8C>T
ENST00000485515.5:n.60+8C>T
NM_003000.2:c.72+8C>T , LRG_316t1:c.72+8C>T	NP_002991.2:n.72+8C>T
NM_003000.3:c.72+8C>T MANE Select	NP_002991.2:n.72+8C>T