Canonical Allele Identifier: CA18669746

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2947224
• ClinVar RCV Id: RCV003801414
• dbSNP Id: rs572028124
• gnomAD v3: 1-17033110-A-G
• gnomAD v4: 1-17033110-A-G
• MyVariant Identifiers: chr1:g.17359605A>G (hg19) ; chr1:g.17033110A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033110A>G , CM000663.2:g.17033110A>G	GRCh38
NC_000001.10:g.17359605A>G , CM000663.1:g.17359605A>G	GRCh37
NC_000001.9:g.17232192A>G	NCBI36
NG_012340.1:g.26061T>C , LRG_316:g.26061T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.65T>C	ENSP00000481376.2:p.Ile22Thr
ENST00000491274.6:c.194T>C	ENSP00000480482.2:p.Ile65Thr
ENST00000375499.8:c.236T>C MANE Select	ENSP00000364649.3:p.Ile79Thr
ENST00000375499.7:c.236T>C	ENSP00000364649.3:p.Ile79Thr
ENST00000463045.2:c.65T>C	ENSP00000481376.1:p.Ile22Thr
ENST00000466613.2:n.248T>C
ENST00000475506.1:n.153T>C
ENST00000485515.5:n.224T>C
ENST00000491274.5:c.194T>C	ENSP00000480482.1:p.Ile65Thr
NM_003000.2:c.236T>C , LRG_316t1:c.236T>C	NP_002991.2:p.Ile79Thr
NM_003000.3:c.236T>C MANE Select	NP_002991.2:p.Ile79Thr