Canonical Allele Identifier: CA338275269

Gene: SDHB

Linked Data

• gnomAD v4: 1-17028734-T-C
• MyVariant Identifiers: chr1:g.17355229T>C (hg19) ; chr1:g.17028734T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.118A>G	ENSP00000481376.2:p.Ile40Val
ENST00000491274.6:c.247A>G	ENSP00000480482.2:p.Ile83Val
ENST00000375499.8:c.289A>G MANE Select	ENSP00000364649.3:p.Ile97Val
ENST00000375499.7:c.289A>G	ENSP00000364649.3:p.Ile97Val
ENST00000463045.2:c.118A>G	ENSP00000481376.1:p.Ile40Val
ENST00000475506.1:n.206A>G
ENST00000485515.5:n.277A>G
ENST00000491274.5:c.247A>G	ENSP00000480482.1:p.Ile83Val
NM_003000.2:c.289A>G , LRG_316t1:c.289A>G	NP_002991.2:p.Ile97Val
NM_003000.3:c.289A>G MANE Select	NP_002991.2:p.Ile97Val