Canonical Allele Identifier: CA10577675

Gene: SDHB

Linked Data

• ClinVar Variation Id: 230224
• ClinVar RCV Id: RCV000219011 ; RCV000505327 ; RCV001857761 ; RCV004020649
• dbSNP Id: rs876658451
• gnomAD v4: 1-17027844-G-A
• MyVariant Identifiers: chr1:g.17354339G>A (hg19) ; chr1:g.17027844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027844G>A , CM000663.2:g.17027844G>A	GRCh38
NC_000001.10:g.17354339G>A , CM000663.1:g.17354339G>A	GRCh37
NC_000001.9:g.17226926G>A	NCBI36
NG_012340.1:g.31327C>T , LRG_316:g.31327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.274C>T	ENSP00000481376.2:p.Gln92Ter
ENST00000491274.6:c.403C>T	ENSP00000480482.2:p.Gln135Ter
ENST00000375499.8:c.445C>T MANE Select	ENSP00000364649.3:p.Gln149Ter
ENST00000375499.7:c.445C>T	ENSP00000364649.3:p.Gln149Ter
ENST00000463045.2:c.274C>T	ENSP00000481376.1:p.Gln92Ter
ENST00000475506.1:n.362C>T
ENST00000485515.5:n.379C>T
ENST00000491274.5:c.403C>T	ENSP00000480482.1:p.Gln135Ter
NM_003000.2:c.445C>T , LRG_316t1:c.445C>T	NP_002991.2:p.Gln149Ter
NM_003000.3:c.445C>T MANE Select	NP_002991.2:p.Gln149Ter