Canonical Allele Identifier: CA416086152

Gene: SDHB

Linked Data

• ClinVar Variation Id: 486416
• ClinVar RCV Id: RCV000565893 ; RCV001480877
• dbSNP Id: rs1553177685
• gnomAD v4: 1-17027824-A-G
• MyVariant Identifiers: chr1:g.17354319A>G (hg19) ; chr1:g.17027824A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027824A>G , CM000663.2:g.17027824A>G	GRCh38
NC_000001.10:g.17354319A>G , CM000663.1:g.17354319A>G	GRCh37
NC_000001.9:g.17226906A>G	NCBI36
NG_012340.1:g.31347T>C , LRG_316:g.31347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.294T>C	ENSP00000481376.2:p.Pro98=
ENST00000491274.6:c.423T>C	ENSP00000480482.2:p.Pro141=
ENST00000375499.8:c.465T>C MANE Select	ENSP00000364649.3:p.Pro155=
ENST00000375499.7:c.465T>C	ENSP00000364649.3:p.Pro155=
ENST00000463045.2:c.294T>C	ENSP00000481376.1:p.Pro98=
ENST00000475506.1:n.382T>C
ENST00000485515.5:n.399T>C
ENST00000491274.5:c.423T>C	ENSP00000480482.1:p.Pro141=
NM_003000.2:c.465T>C , LRG_316t1:c.465T>C	NP_002991.2:p.Pro155=
NM_003000.3:c.465T>C MANE Select	NP_002991.2:p.Pro155=