Canonical Allele Identifier: CA521039145
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 459150
ClinVar RCV Id: RCV000556470 RCV001023034 RCV003476238
dbSNP Id: rs1173714647
gnomAD v2: 1-17354303-CCTT-C
gnomAD v3: 1-17027808-CCTT-C
gnomAD v4: 1-17027808-CCTT-C
MyVariant Identifiers: chr1:g.17354304_17354306del (hg19) chr1:g.17027809_17027811del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027816_17027818del , CM000663.2:g.17027816_17027818del GRCh38
NC_000001.10:g.17354311_17354313del , CM000663.1:g.17354311_17354313del GRCh37
NC_000001.9:g.17226898_17226900del NCBI36
NG_012340.1:g.31360_31362del , LRG_316:g.31360_31362del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.307_309del ENSP00000481376.2:p.Lys103del
ENST00000491274.6:c.436_438del ENSP00000480482.2:p.Lys146del
ENST00000375499.8:c.478_480del MANE Select ENSP00000364649.3:p.Lys160del
ENST00000375499.7:c.478_480del ENSP00000364649.3:p.Lys160del
ENST00000463045.2:c.307_309del ENSP00000481376.1:p.Lys103del
ENST00000475506.1:n.395_397del
ENST00000485515.5:n.412_414del
ENST00000491274.5:c.436_438del ENSP00000480482.1:p.Lys146del
NM_003000.2:c.478_480del , LRG_316t1:c.478_480del NP_002991.2:p.Lys160del
NM_003000.3:c.478_480del MANE Select NP_002991.2:p.Lys160del
Search 100 bp 5'
Search 100 bp 3'