Canonical Allele Identifier: CA338275267

Gene: SDHB

Linked Data

• ClinVar Variation Id: 480784
• ClinVar RCV Id: RCV000567029 ; RCV000693661 ; RCV003476322 ; RCV004000898
• dbSNP Id: rs1553177769
• MyVariant Identifiers: chr1:g.17355229T>A (hg19) ; chr1:g.17028734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028734T>A , CM000663.2:g.17028734T>A	GRCh38
NC_000001.10:g.17355229T>A , CM000663.1:g.17355229T>A	GRCh37
NC_000001.9:g.17227816T>A	NCBI36
NG_012340.1:g.30437A>T , LRG_316:g.30437A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.118A>T	ENSP00000481376.2:p.Ile40Phe
ENST00000491274.6:c.247A>T	ENSP00000480482.2:p.Ile83Phe
ENST00000375499.8:c.289A>T MANE Select	ENSP00000364649.3:p.Ile97Phe
ENST00000375499.7:c.289A>T	ENSP00000364649.3:p.Ile97Phe
ENST00000463045.2:c.118A>T	ENSP00000481376.1:p.Ile40Phe
ENST00000475506.1:n.206A>T
ENST00000485515.5:n.277A>T
ENST00000491274.5:c.247A>T	ENSP00000480482.1:p.Ile83Phe
NM_003000.2:c.289A>T , LRG_316t1:c.289A>T	NP_002991.2:p.Ile97Phe
NM_003000.3:c.289A>T MANE Select	NP_002991.2:p.Ile97Phe