Canonical Allele Identifier: CA1156080146

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1596031
• ClinVar RCV Id: RCV002117261
• dbSNP Id: rs2077999115
• gnomAD v4: 1-17027737-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027737G>A , CM000663.2:g.17027737G>A	GRCh38
NC_000001.10:g.17354232G>A , CM000663.1:g.17354232G>A	GRCh37
NC_000001.9:g.17226819G>A	NCBI36
NG_012340.1:g.31434C>T , LRG_316:g.31434C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.369+12C>T	ENSP00000481376.2:n.369+12C>T
ENST00000491274.6:c.498+12C>T	ENSP00000480482.2:n.498+12C>T
ENST00000375499.8:c.540+12C>T MANE Select	ENSP00000364649.3:n.540+12C>T
ENST00000375499.7:c.540+12C>T	ENSP00000364649.3:n.540+12C>T
ENST00000475506.1:n.469C>T
ENST00000485515.5:n.474+12C>T
ENST00000491274.5:c.498+12C>T	ENSP00000480482.1:n.498+12C>T
NM_003000.2:c.540+12C>T , LRG_316t1:c.540+12C>T	NP_002991.2:n.540+12C>T
NM_003000.3:c.540+12C>T MANE Select	NP_002991.2:n.540+12C>T