Canonical Allele Identifier: CA338272813
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 528726
ClinVar RCV Id: RCV000633949 RCV003471988
dbSNP Id: rs1553177682
gnomAD v2: 1-17354303-C-T
gnomAD v4: 1-17027808-C-T
MyVariant Identifiers: chr1:g.17354303C>T (hg19) chr1:g.17354303_17354306delinsTCTT (hg19) chr1:g.17027808C>T (hg38) chr1:g.17027808_17027811delinsTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027808C>T , CM000663.2:g.17027808C>T GRCh38
NC_000001.10:g.17354303C>T , CM000663.1:g.17354303C>T GRCh37
NC_000001.9:g.17226890C>T NCBI36
NG_012340.1:g.31363G>A , LRG_316:g.31363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.310G>A ENSP00000481376.2:p.Asp104Asn
ENST00000491274.6:c.439G>A ENSP00000480482.2:p.Asp147Asn
ENST00000375499.8:c.481G>A MANE Select ENSP00000364649.3:p.Asp161Asn
ENST00000375499.7:c.481G>A ENSP00000364649.3:p.Asp161Asn
ENST00000463045.2:c.310G>A ENSP00000481376.1:p.Asp104Asn
ENST00000475506.1:n.398G>A
ENST00000485515.5:n.415G>A
ENST00000491274.5:c.439G>A ENSP00000480482.1:p.Asp147Asn
NM_003000.2:c.481G>A , LRG_316t1:c.481G>A NP_002991.2:p.Asp161Asn
NM_003000.3:c.481G>A MANE Select NP_002991.2:p.Asp161Asn
Search 100 bp 5'
Search 100 bp 3'