Canonical Allele Identifier: CA338270182

Gene: SDHB

Linked Data

• ClinVar Variation Id: 826947
• ClinVar RCV Id: RCV001026234
• dbSNP Id: rs1570944788
• MyVariant Identifiers: chr1:g.17349140C>A (hg19) ; chr1:g.17022645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022645C>A , CM000663.2:g.17022645C>A	GRCh38
NC_000001.10:g.17349140C>A , CM000663.1:g.17349140C>A	GRCh37
NC_000001.9:g.17221727C>A	NCBI36
NG_012340.1:g.36526G>T , LRG_316:g.36526G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.557G>T	ENSP00000481376.2:p.Cys186Phe
ENST00000491274.6:c.686G>T	ENSP00000480482.2:p.Cys229Phe
ENST00000375499.8:c.728G>T MANE Select	ENSP00000364649.3:p.Cys243Phe
ENST00000375499.7:c.728G>T	ENSP00000364649.3:p.Cys243Phe
ENST00000475049.5:n.153G>T
ENST00000485092.5:n.392G>T
ENST00000485515.5:n.662G>T
NM_003000.2:c.728G>T , LRG_316t1:c.728G>T	NP_002991.2:p.Cys243Phe
NM_003000.3:c.728G>T MANE Select	NP_002991.2:p.Cys243Phe