Canonical Allele Identifier: CA16609949

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412457
• ClinVar RCV Id: RCV000458678
• dbSNP Id: rs876659329
• MyVariant Identifiers: chr1:g.17371262A>G (hg19) ; chr1:g.17044767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044767A>G , CM000663.2:g.17044767A>G	GRCh38
NC_000001.10:g.17371262A>G , CM000663.1:g.17371262A>G	GRCh37
NC_000001.9:g.17243849A>G	NCBI36
NG_012340.1:g.14404T>C , LRG_316:g.14404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.23T>C	ENSP00000481376.2:p.Leu8Pro
ENST00000491274.6:c.152T>C	ENSP00000480482.2:p.Leu51Pro
ENST00000375499.8:c.194T>C MANE Select	ENSP00000364649.3:p.Leu65Pro
ENST00000375499.7:c.194T>C	ENSP00000364649.3:p.Leu65Pro
ENST00000463045.2:c.23T>C	ENSP00000481376.1:p.Leu8Pro
ENST00000466613.2:n.206T>C
ENST00000475506.1:n.111T>C
ENST00000485515.5:n.182T>C
ENST00000491274.5:c.152T>C	ENSP00000480482.1:p.Leu51Pro
NM_003000.2:c.194T>C , LRG_316t1:c.194T>C	NP_002991.2:p.Leu65Pro
NM_003000.3:c.194T>C MANE Select	NP_002991.2:p.Leu65Pro