Canonical Allele Identifier: CA16617023

Gene: SDHB

Linked Data

• ClinVar Variation Id: 420072
• ClinVar RCV Id: RCV000486186 ; RCV000492665 ; RCV001203212 ; RCV001195795 ; RCV004535508
• dbSNP Id: rs1064794270
• MyVariant Identifiers: chr1:g.17355233T>C (hg19) ; chr1:g.17028738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028738T>C , CM000663.2:g.17028738T>C	GRCh38
NC_000001.10:g.17355233T>C , CM000663.1:g.17355233T>C	GRCh37
NC_000001.9:g.17227820T>C	NCBI36
NG_012340.1:g.30433A>G , LRG_316:g.30433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.116-2A>G	ENSP00000481376.2:n.116-2A>G
ENST00000491274.6:c.245-2A>G	ENSP00000480482.2:n.245-2A>G
ENST00000375499.8:c.287-2A>G MANE Select	ENSP00000364649.3:n.287-2A>G
ENST00000375499.7:c.287-2A>G	ENSP00000364649.3:n.287-2A>G
ENST00000463045.2:c.116-2A>G	ENSP00000481376.1:n.116-2A>G
ENST00000475506.1:n.204-2A>G
ENST00000485515.5:n.275-2A>G
ENST00000491274.5:c.245-2A>G	ENSP00000480482.1:n.245-2A>G
NM_003000.2:c.287-2A>G , LRG_316t1:c.287-2A>G	NP_002991.2:n.287-2A>G
NM_003000.3:c.287-2A>G MANE Select	NP_002991.2:n.287-2A>G