Canonical Allele Identifier: CA526962063
Gene: SDHC HGNC NCBI

Linked Data

dbSNP Id: rs1469986518
gnomAD v2: 1-161326681-CTG-C
gnomAD v4: 1-161356891-CTG-C
MyVariant Identifiers: chr1:g.161326682_161326683del (hg19) chr1:g.161356892_161356893del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161356892_161356893del , CM000663.2:g.161356892_161356893del GRCh38
NC_000001.10:g.161326682_161326683del , CM000663.1:g.161326682_161326683del GRCh37
NC_000001.9:g.159593306_159593307del NCBI36
NG_012767.1:g.47517_47518del , LRG_317:g.47517_47518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470743.5:c.*406+52_*406+53del ENSP00000482902.2:n.*406+52_*406+53del
ENST00000367975.7:c.405+52_405+53del MANE Select ENSP00000356953.3:n.405+52_405+53del
ENST00000342751.8:c.242-5437_242-5436del ENSP00000356952.3:n.242-5437_242-5436del
ENST00000367975.6:c.405+52_405+53del ENSP00000356953.2:n.405+52_405+53del
ENST00000392169.6:c.246+52_246+53del ENSP00000376009.2:n.246+52_246+53del
ENST00000432287.6:c.303+52_303+53del ENSP00000390558.2:n.303+52_303+53del
ENST00000470743.4:c.503+52_503+53del
ENST00000504963.5:c.*228+52_*228+53del ENSP00000423929.1:n.*228+52_*228+53del
ENST00000513009.5:c.140-5437_140-5436del ENSP00000423260.1:n.140-5437_140-5436del
NM_001035511.1:c.242-5437_242-5436del NP_001030588.1:n.242-5437_242-5436del
NM_001035512.1:c.303+52_303+53del NP_001030589.1:n.303+52_303+53del
NM_001035513.1:c.246+52_246+53del NP_001030590.1:n.246+52_246+53del
NM_001278172.1:c.140-5437_140-5436del NP_001265101.1:n.140-5437_140-5436del
NM_003001.3:c.405+52_405+53del , LRG_317t1:c.405+52_405+53del NP_002992.1:n.405+52_405+53del
NR_103459.1:n.462+52_462+53del
NM_001035511.2:c.242-5437_242-5436del NP_001030588.1:n.242-5437_242-5436del
NM_001035512.2:c.303+52_303+53del NP_001030589.1:n.303+52_303+53del
NM_001035513.2:c.246+52_246+53del NP_001030590.1:n.246+52_246+53del
NM_001278172.2:c.140-5437_140-5436del NP_001265101.1:n.140-5437_140-5436del
NM_003001.5:c.405+52_405+53del MANE Select NP_002992.1:n.405+52_405+53del
NR_103459.2:n.457+52_457+53del
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