Canonical Allele Identifier: CA338274133

Gene: SDHB

Linked Data

• dbSNP Id: rs2078004482
• gnomAD v3: 1-17028627-G-T
• gnomAD v4: 1-17028627-G-T
• MyVariant Identifiers: chr1:g.17355122G>T (hg19) ; chr1:g.17028627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028627G>T , CM000663.2:g.17028627G>T	GRCh38
NC_000001.10:g.17355122G>T , CM000663.1:g.17355122G>T	GRCh37
NC_000001.9:g.17227709G>T	NCBI36
NG_012340.1:g.30544C>A , LRG_316:g.30544C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.225C>A	ENSP00000481376.2:p.His75Gln
ENST00000491274.6:c.354C>A	ENSP00000480482.2:p.His118Gln
ENST00000375499.8:c.396C>A MANE Select	ENSP00000364649.3:p.His132Gln
ENST00000375499.7:c.396C>A	ENSP00000364649.3:p.His132Gln
ENST00000463045.2:c.225C>A	ENSP00000481376.1:p.His75Gln
ENST00000475506.1:n.313C>A
ENST00000485515.5:n.357+27C>A
ENST00000491274.5:c.354C>A	ENSP00000480482.1:p.His118Gln
NM_003000.2:c.396C>A , LRG_316t1:c.396C>A	NP_002991.2:p.His132Gln
NM_003000.3:c.396C>A MANE Select	NP_002991.2:p.His132Gln