Canonical Allele Identifier: CA416081923

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1099724
• ClinVar RCV Id: RCV001422123
• dbSNP Id: rs2101513742
• gnomAD v4: 1-17022656-A-G
• MyVariant Identifiers: chr1:g.17349151A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022656A>G , CM000663.2:g.17022656A>G	GRCh38
NC_000001.10:g.17349151A>G , CM000663.1:g.17349151A>G	GRCh37
NC_000001.9:g.17221738A>G	NCBI36
NG_012340.1:g.36515T>C , LRG_316:g.36515T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.546T>C	ENSP00000481376.2:p.Ser182=
ENST00000491274.6:c.675T>C	ENSP00000480482.2:p.Ser225=
ENST00000375499.8:c.717T>C MANE Select	ENSP00000364649.3:p.Ser239=
ENST00000375499.7:c.717T>C	ENSP00000364649.3:p.Ser239=
ENST00000475049.5:n.142T>C
ENST00000485092.5:n.381T>C
ENST00000485515.5:n.651T>C
NM_003000.2:c.717T>C , LRG_316t1:c.717T>C	NP_002991.2:p.Ser239=
NM_003000.3:c.717T>C MANE Select	NP_002991.2:p.Ser239=