Canonical Allele Identifier: CA10662058
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1292471
ClinVar RCV Id: RCV001714466
dbSNP Id: rs761420
gnomAD v2: 1-17348847-G-C
gnomAD v3: 1-17022352-G-C
gnomAD v4: 1-17022352-G-C
MyVariant Identifiers: chr1:g.17348847G>C (hg19) chr1:g.17022352G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022352G>C , CM000663.2:g.17022352G>C GRCh38
NC_000001.10:g.17348847G>C , CM000663.1:g.17348847G>C GRCh37
NC_000001.9:g.17221434G>C NCBI36
NG_012340.1:g.36819C>G , LRG_316:g.36819C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.594+256C>G ENSP00000481376.2:n.594+256C>G
ENST00000491274.6:c.723+256C>G ENSP00000480482.2:n.723+256C>G
ENST00000375499.8:c.765+256C>G MANE Select ENSP00000364649.3:n.765+256C>G
ENST00000375499.7:c.765+256C>G ENSP00000364649.3:n.765+256C>G
ENST00000475049.5:n.190+256C>G
ENST00000485092.5:n.429+256C>G
NM_003000.2:c.765+256C>G , LRG_316t1:c.765+256C>G NP_002991.2:n.765+256C>G
NM_003000.3:c.765+256C>G MANE Select NP_002991.2:n.765+256C>G
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