Canonical Allele Identifier: CA18666370

Gene: SDHB

Linked Data

• dbSNP Id: rs184707927
• gnomAD v3: 1-17028347-C-T
• gnomAD v4: 1-17028347-C-T
• MyVariant Identifiers: chr1:g.17354842C>T (hg19) ; chr1:g.17028347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028347C>T , CM000663.2:g.17028347C>T	GRCh38
NC_000001.10:g.17354842C>T , CM000663.1:g.17354842C>T	GRCh37
NC_000001.9:g.17227429C>T	NCBI36
NG_012340.1:g.30824G>A , LRG_316:g.30824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+253G>A	ENSP00000481376.2:n.252+253G>A
ENST00000491274.6:c.381+253G>A	ENSP00000480482.2:n.381+253G>A
ENST00000375499.8:c.423+253G>A MANE Select	ENSP00000364649.3:n.423+253G>A
ENST00000375499.7:c.423+253G>A	ENSP00000364649.3:n.423+253G>A
ENST00000463045.2:c.252+253G>A	ENSP00000481376.1:n.252+253G>A
ENST00000475506.1:n.340+253G>A
ENST00000485515.5:n.357+307G>A
ENST00000491274.5:c.381+253G>A	ENSP00000480482.1:n.381+253G>A
NM_003000.2:c.423+253G>A , LRG_316t1:c.423+253G>A	NP_002991.2:n.423+253G>A
NM_003000.3:c.423+253G>A MANE Select	NP_002991.2:n.423+253G>A