Canonical Allele Identifier: CA338274262

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1399491
• ClinVar RCV Id: RCV001917706
• dbSNP Id: rs2101523045
• MyVariant Identifiers: chr1:g.17355130G>A (hg19) ; chr1:g.17028635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028635G>A , CM000663.2:g.17028635G>A	GRCh38
NC_000001.10:g.17355130G>A , CM000663.1:g.17355130G>A	GRCh37
NC_000001.9:g.17227717G>A	NCBI36
NG_012340.1:g.30536C>T , LRG_316:g.30536C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.217C>T	ENSP00000481376.2:p.Leu73Phe
ENST00000491274.6:c.346C>T	ENSP00000480482.2:p.Leu116Phe
ENST00000375499.8:c.388C>T MANE Select	ENSP00000364649.3:p.Leu130Phe
ENST00000375499.7:c.388C>T	ENSP00000364649.3:p.Leu130Phe
ENST00000463045.2:c.217C>T	ENSP00000481376.1:p.Leu73Phe
ENST00000475506.1:n.305C>T
ENST00000485515.5:n.357+19C>T
ENST00000491274.5:c.346C>T	ENSP00000480482.1:p.Leu116Phe
NM_003000.2:c.388C>T , LRG_316t1:c.388C>T	NP_002991.2:p.Leu130Phe
NM_003000.3:c.388C>T MANE Select	NP_002991.2:p.Leu130Phe