Canonical Allele Identifier: CA338270321

Gene: SDHB

Linked Data

• ClinVar Variation Id: 468235
• ClinVar RCV Id: RCV000534002
• dbSNP Id: rs1553177285
• MyVariant Identifiers: chr1:g.17349171T>A (hg19) ; chr1:g.17022676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022676T>A , CM000663.2:g.17022676T>A	GRCh38
NC_000001.10:g.17349171T>A , CM000663.1:g.17349171T>A	GRCh37
NC_000001.9:g.17221758T>A	NCBI36
NG_012340.1:g.36495A>T , LRG_316:g.36495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.526A>T	ENSP00000481376.2:p.Lys176Ter
ENST00000491274.6:c.655A>T	ENSP00000480482.2:p.Lys219Ter
ENST00000375499.8:c.697A>T MANE Select	ENSP00000364649.3:p.Lys233Ter
ENST00000375499.7:c.697A>T	ENSP00000364649.3:p.Lys233Ter
ENST00000475049.5:n.122A>T
ENST00000485092.5:n.361A>T
ENST00000485515.5:n.631A>T
NM_003000.2:c.697A>T , LRG_316t1:c.697A>T	NP_002991.2:p.Lys233Ter
NM_003000.3:c.697A>T MANE Select	NP_002991.2:p.Lys233Ter