Canonical Allele Identifier: CA521037733
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs1442938195
gnomAD v2: 1-17349452-AC-A
gnomAD v3: 1-17022957-AC-A
gnomAD v4: 1-17022957-AC-A
MyVariant Identifiers: chr1:g.17349453del (hg19) chr1:g.17022958del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022960del , CM000663.2:g.17022960del GRCh38
NC_000001.10:g.17349455del , CM000663.1:g.17349455del GRCh37
NC_000001.9:g.17222042del NCBI36
NG_012340.1:g.36213del , LRG_316:g.36213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.472-228del ENSP00000481376.2:n.472-228del
ENST00000491274.6:c.601-228del ENSP00000480482.2:n.601-228del
ENST00000375499.8:c.643-228del MANE Select ENSP00000364649.3:n.643-228del
ENST00000375499.7:c.643-228del ENSP00000364649.3:n.643-228del
ENST00000475049.5:n.67+136del
ENST00000485092.5:n.79del
ENST00000485515.5:n.577-228del
NM_003000.2:c.643-228del , LRG_316t1:c.643-228del NP_002991.2:n.643-228del
NM_003000.3:c.643-228del MANE Select NP_002991.2:n.643-228del
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