Canonical Allele Identifier: CA338274119

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2921910
• ClinVar RCV Id: RCV003782932
• dbSNP Id: rs201403014
• MyVariant Identifiers: chr1:g.17355119C>T (hg19) ; chr1:g.17028624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028624C>T , CM000663.2:g.17028624C>T	GRCh38
NC_000001.10:g.17355119C>T , CM000663.1:g.17355119C>T	GRCh37
NC_000001.9:g.17227706C>T	NCBI36
NG_012340.1:g.30547G>A , LRG_316:g.30547G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.228G>A	ENSP00000481376.2:p.Met76Ile
ENST00000491274.6:c.357G>A	ENSP00000480482.2:p.Met119Ile
ENST00000375499.8:c.399G>A MANE Select	ENSP00000364649.3:p.Met133Ile
ENST00000375499.7:c.399G>A	ENSP00000364649.3:p.Met133Ile
ENST00000463045.2:c.228G>A	ENSP00000481376.1:p.Met76Ile
ENST00000475506.1:n.316G>A
ENST00000485515.5:n.357+30G>A
ENST00000491274.5:c.357G>A	ENSP00000480482.1:p.Met119Ile
NM_003000.2:c.399G>A , LRG_316t1:c.399G>A	NP_002991.2:p.Met133Ile
NM_003000.3:c.399G>A MANE Select	NP_002991.2:p.Met133Ile