Canonical Allele Identifier: CA089697

Gene: SDHB

Linked Data

• ClinVar Variation Id: 745505
• ClinVar RCV Id: RCV000922055 ; RCV002363382 ; RCV004003197
• dbSNP Id: rs748796588
• ExAC: 1:17349229 G / C
• gnomAD v2: 1-17349229-G-C
• gnomAD v4: 1-17022734-G-C
• MyVariant Identifiers: chr1:g.17349229G>C (hg19) ; chr1:g.17022734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022734G>C , CM000663.2:g.17022734G>C	GRCh38
NC_000001.10:g.17349229G>C , CM000663.1:g.17349229G>C	GRCh37
NC_000001.9:g.17221816G>C	NCBI36
NG_012340.1:g.36437C>G , LRG_316:g.36437C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.472-4C>G	ENSP00000481376.2:n.472-4C>G
ENST00000491274.6:c.601-4C>G	ENSP00000480482.2:n.601-4C>G
ENST00000375499.8:c.643-4C>G MANE Select	ENSP00000364649.3:n.643-4C>G
ENST00000375499.7:c.643-4C>G	ENSP00000364649.3:n.643-4C>G
ENST00000475049.5:n.68-4C>G
ENST00000485092.5:n.303C>G
ENST00000485515.5:n.577-4C>G
NM_003000.2:c.643-4C>G , LRG_316t1:c.643-4C>G	NP_002991.2:n.643-4C>G
NM_003000.3:c.643-4C>G MANE Select	NP_002991.2:n.643-4C>G