Canonical Allele Identifier: CA089717
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 459168
ClinVar RCV Id: RCV000530499 RCV002377033 RCV004003800
dbSNP Id: rs759446340
ExAC: 1:17349148 T / C
gnomAD v2: 1-17349148-T-C
gnomAD v4: 1-17022653-T-C
MyVariant Identifiers: chr1:g.17349148T>C (hg19) chr1:g.17022653T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022653T>C , CM000663.2:g.17022653T>C GRCh38
NC_000001.10:g.17349148T>C , CM000663.1:g.17349148T>C GRCh37
NC_000001.9:g.17221735T>C NCBI36
NG_012340.1:g.36518A>G , LRG_316:g.36518A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.549A>G ENSP00000481376.2:p.Leu183=
ENST00000491274.6:c.678A>G ENSP00000480482.2:p.Leu226=
ENST00000375499.8:c.720A>G MANE Select ENSP00000364649.3:p.Leu240=
ENST00000375499.7:c.720A>G ENSP00000364649.3:p.Leu240=
ENST00000475049.5:n.145A>G
ENST00000485092.5:n.384A>G
ENST00000485515.5:n.654A>G
NM_003000.2:c.720A>G , LRG_316t1:c.720A>G NP_002991.2:p.Leu240=
NM_003000.3:c.720A>G MANE Select NP_002991.2:p.Leu240=
Search 100 bp 5'
Search 100 bp 3'