Canonical Allele Identifier: CA18666459

Gene: SDHB

Linked Data

• dbSNP Id: rs934611904
• gnomAD v2: 1-17354955-G-A
• gnomAD v3: 1-17028460-G-A
• gnomAD v4: 1-17028460-G-A
• MyVariant Identifiers: chr1:g.17354955G>A (hg19) ; chr1:g.17028460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028460G>A , CM000663.2:g.17028460G>A	GRCh38
NC_000001.10:g.17354955G>A , CM000663.1:g.17354955G>A	GRCh37
NC_000001.9:g.17227542G>A	NCBI36
NG_012340.1:g.30711C>T , LRG_316:g.30711C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.252+140C>T	ENSP00000481376.2:n.252+140C>T
ENST00000491274.6:c.381+140C>T	ENSP00000480482.2:n.381+140C>T
ENST00000375499.8:c.423+140C>T MANE Select	ENSP00000364649.3:n.423+140C>T
ENST00000375499.7:c.423+140C>T	ENSP00000364649.3:n.423+140C>T
ENST00000463045.2:c.252+140C>T	ENSP00000481376.1:n.252+140C>T
ENST00000475506.1:n.340+140C>T
ENST00000485515.5:n.357+194C>T
ENST00000491274.5:c.381+140C>T	ENSP00000480482.1:n.381+140C>T
NM_003000.2:c.423+140C>T , LRG_316t1:c.423+140C>T	NP_002991.2:n.423+140C>T
NM_003000.3:c.423+140C>T MANE Select	NP_002991.2:n.423+140C>T