Canonical Allele Identifier: CA521039243

Gene: SDHB

Linked Data

• dbSNP Id: rs1296571209
• gnomAD v2: 1-17354781-C-T
• gnomAD v3: 1-17028286-C-T
• gnomAD v4: 1-17028286-C-T
• MyVariant Identifiers: chr1:g.17354781C>T (hg19) ; chr1:g.17028286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028286C>T , CM000663.2:g.17028286C>T	GRCh38
NC_000001.10:g.17354781C>T , CM000663.1:g.17354781C>T	GRCh37
NC_000001.9:g.17227368C>T	NCBI36
NG_012340.1:g.30885G>A , LRG_316:g.30885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+314G>A	ENSP00000481376.2:n.252+314G>A
ENST00000491274.6:c.381+314G>A	ENSP00000480482.2:n.381+314G>A
ENST00000375499.8:c.423+314G>A MANE Select	ENSP00000364649.3:n.423+314G>A
ENST00000375499.7:c.423+314G>A	ENSP00000364649.3:n.423+314G>A
ENST00000463045.2:c.252+314G>A	ENSP00000481376.1:n.252+314G>A
ENST00000475506.1:n.340+314G>A
ENST00000485515.5:n.357+368G>A
ENST00000491274.5:c.381+314G>A	ENSP00000480482.1:n.381+314G>A
NM_003000.2:c.423+314G>A , LRG_316t1:c.423+314G>A	NP_002991.2:n.423+314G>A
NM_003000.3:c.423+314G>A MANE Select	NP_002991.2:n.423+314G>A