Canonical Allele Identifier: CA338228438

Gene: SDHB

Linked Data

• gnomAD v4: 1-17044887-G-A
• COSMIC: COSM3418357
• MyVariant Identifiers: chr1:g.17371382G>A (hg19) ; chr1:g.17044887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044887G>A , CM000663.2:g.17044887G>A	GRCh38
NC_000001.10:g.17371382G>A , CM000663.1:g.17371382G>A	GRCh37
NC_000001.9:g.17243969G>A	NCBI36
NG_012340.1:g.14284C>T , LRG_316:g.14284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-98C>T	ENSP00000481376.2:n.-98C>T
ENST00000491274.6:c.32C>T	ENSP00000480482.2:p.Ala11Val
ENST00000375499.8:c.74C>T MANE Select	ENSP00000364649.3:p.Ala25Val
ENST00000375499.7:c.74C>T	ENSP00000364649.3:p.Ala25Val
ENST00000463045.2:c.-98C>T	ENSP00000481376.1:n.-98C>T
ENST00000466613.2:n.86C>T
ENST00000485515.5:n.62C>T
ENST00000491274.5:c.32C>T	ENSP00000480482.1:p.Ala11Val
NM_003000.2:c.74C>T , LRG_316t1:c.74C>T	NP_002991.2:p.Ala25Val
NM_003000.3:c.74C>T MANE Select	NP_002991.2:p.Ala25Val