Canonical Allele Identifier: CA089612

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1537261
• ClinVar RCV Id: RCV002157137
• dbSNP Id: rs199523383
• ExAC: 1:17354371 G / C
• gnomAD v2: 1-17354371-G-C
• gnomAD v4: 1-17027876-G-C
• MyVariant Identifiers: chr1:g.17354371G>C (hg19) ; chr1:g.17027876G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027876G>C , CM000663.2:g.17027876G>C	GRCh38
NC_000001.10:g.17354371G>C , CM000663.1:g.17354371G>C	GRCh37
NC_000001.9:g.17226958G>C	NCBI36
NG_012340.1:g.31295C>G , LRG_316:g.31295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.253-11C>G	ENSP00000481376.2:n.253-11C>G
ENST00000491274.6:c.382-11C>G	ENSP00000480482.2:n.382-11C>G
ENST00000375499.8:c.424-11C>G MANE Select	ENSP00000364649.3:n.424-11C>G
ENST00000375499.7:c.424-11C>G	ENSP00000364649.3:n.424-11C>G
ENST00000463045.2:c.253-11C>G	ENSP00000481376.1:n.253-11C>G
ENST00000475506.1:n.341-11C>G
ENST00000485515.5:n.358-11C>G
ENST00000491274.5:c.382-11C>G	ENSP00000480482.1:n.382-11C>G
NM_003000.2:c.424-11C>G , LRG_316t1:c.424-11C>G	NP_002991.2:n.424-11C>G
NM_003000.3:c.424-11C>G MANE Select	NP_002991.2:n.424-11C>G