Canonical Allele Identifier: CA089726
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2941917
ClinVar RCV Id: RCV003802939
dbSNP Id: rs569245129
ExAC: 1:17380440 C / G
gnomAD v4: 1-17053945-C-G
MyVariant Identifiers: chr1:g.17380440C>G (hg19) chr1:g.17053945C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053945C>G , CM000663.2:g.17053945C>G GRCh38
NC_000001.10:g.17380440C>G , CM000663.1:g.17380440C>G GRCh37
NC_000001.9:g.17253027C>G NCBI36
NG_012340.1:g.5226G>C , LRG_316:g.5226G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.72+3G>C MANE Select ENSP00000364649.3:n.72+3G>C
ENST00000375499.7:c.72+3G>C ENSP00000364649.3:n.72+3G>C
ENST00000466613.2:n.84+3G>C
ENST00000485515.5:n.60+3G>C
NM_003000.2:c.72+3G>C , LRG_316t1:c.72+3G>C NP_002991.2:n.72+3G>C
NM_003000.3:c.72+3G>C MANE Select NP_002991.2:n.72+3G>C
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