Canonical Allele Identifier: CA089743
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 643657
ClinVar RCV Id: RCV000797417 RCV001026392 RCV004001611
dbSNP Id: rs768101924
ExAC: 1:17371383 C / T
gnomAD v2: 1-17371383-C-T
gnomAD v3: 1-17044888-C-T
gnomAD v4: 1-17044888-C-T
MyVariant Identifiers: chr1:g.17371383C>T (hg19) chr1:g.17044888C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17044888C>T , CM000663.2:g.17044888C>T GRCh38
NC_000001.10:g.17371383C>T , CM000663.1:g.17371383C>T GRCh37
NC_000001.9:g.17243970C>T NCBI36
NG_012340.1:g.14283G>A , LRG_316:g.14283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.-99G>A ENSP00000481376.2:n.-99G>A
ENST00000491274.6:c.31G>A ENSP00000480482.2:p.Ala11Thr
ENST00000375499.8:c.73G>A MANE Select ENSP00000364649.3:p.Ala25Thr
ENST00000375499.7:c.73G>A ENSP00000364649.3:p.Ala25Thr
ENST00000463045.2:c.-99G>A ENSP00000481376.1:n.-99G>A
ENST00000466613.2:n.85G>A
ENST00000485515.5:n.61G>A
ENST00000491274.5:c.31G>A ENSP00000480482.1:p.Ala11Thr
NM_003000.2:c.73G>A , LRG_316t1:c.73G>A NP_002991.2:p.Ala25Thr
NM_003000.3:c.73G>A MANE Select NP_002991.2:p.Ala25Thr
Search 100 bp 5'
Search 100 bp 3'