Canonical Allele Identifier: CA338270230
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 428914
ClinVar RCV Id: RCV000492257 RCV001856952
dbSNP Id: rs1131691046
gnomAD v2: 1-17349149-A-G
gnomAD v3: 1-17022654-A-G
gnomAD v4: 1-17022654-A-G
MyVariant Identifiers: chr1:g.17349149A>G (hg19) chr1:g.17022654A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022654A>G , CM000663.2:g.17022654A>G GRCh38
NC_000001.10:g.17349149A>G , CM000663.1:g.17349149A>G GRCh37
NC_000001.9:g.17221736A>G NCBI36
NG_012340.1:g.36517T>C , LRG_316:g.36517T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.548T>C ENSP00000481376.2:p.Leu183Pro
ENST00000491274.6:c.677T>C ENSP00000480482.2:p.Leu226Pro
ENST00000375499.8:c.719T>C MANE Select ENSP00000364649.3:p.Leu240Pro
ENST00000375499.7:c.719T>C ENSP00000364649.3:p.Leu240Pro
ENST00000475049.5:n.144T>C
ENST00000485092.5:n.383T>C
ENST00000485515.5:n.653T>C
NM_003000.2:c.719T>C , LRG_316t1:c.719T>C NP_002991.2:p.Leu240Pro
NM_003000.3:c.719T>C MANE Select NP_002991.2:p.Leu240Pro
Search 100 bp 5'
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