Canonical Allele Identifier: CA089578

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1125625
• ClinVar RCV Id: RCV001457416
• dbSNP Id: rs542180633
• ExAC: 1:17355238 G / C
• gnomAD v2: 1-17355238-G-C
• gnomAD v3: 1-17028743-G-C
• gnomAD v4: 1-17028743-G-C
• MyVariant Identifiers: chr1:g.17355238G>C (hg19) ; chr1:g.17028743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028743G>C , CM000663.2:g.17028743G>C	GRCh38
NC_000001.10:g.17355238G>C , CM000663.1:g.17355238G>C	GRCh37
NC_000001.9:g.17227825G>C	NCBI36
NG_012340.1:g.30428C>G , LRG_316:g.30428C>G

Transcript Alleles

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