Canonical Allele Identifier: CA658656975

Gene: SDHC

Linked Data

• ClinVar Variation Id: 480810
• ClinVar RCV Id: RCV000569757 ; RCV001386659
• dbSNP Id: rs1553265817
• MyVariant Identifiers: chr1:g.161326601_161326616del (hg19) ; chr1:g.161356811_161356826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356811_161356826del , CM000663.2:g.161356811_161356826del	GRCh38
NC_000001.10:g.161326601_161326616del , CM000663.1:g.161326601_161326616del	GRCh37
NC_000001.9:g.159593225_159593240del	NCBI36
NG_012767.1:g.47436_47451del , LRG_317:g.47436_47451del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*377_*392del	ENSP00000482902.2:n.*377_*392del
ENST00000367975.7:c.376_391del MANE Select	ENSP00000356953.3:p.Tyr126GlyfsTer5
ENST00000342751.8:c.242-5518_242-5503del	ENSP00000356952.3:n.242-5518_242-5503del
ENST00000367975.6:c.376_391del	ENSP00000356953.2:p.Tyr126GlyfsTer5
ENST00000392169.6:c.217_232del	ENSP00000376009.2:p.Tyr73GlyfsTer5
ENST00000432287.6:c.274_289del	ENSP00000390558.2:p.Tyr92GlyfsTer5
ENST00000470743.4:c.474_489del
ENST00000504963.5:c.*199_*214del	ENSP00000423929.1:n.*199_*214del
ENST00000513009.5:c.140-5518_140-5503del	ENSP00000423260.1:n.140-5518_140-5503del
NM_001035511.1:c.242-5518_242-5503del	NP_001030588.1:n.242-5518_242-5503del
NM_001035512.1:c.274_289del	NP_001030589.1:p.Tyr92GlyfsTer5
NM_001035513.1:c.217_232del	NP_001030590.1:p.Tyr73GlyfsTer5
NM_001278172.1:c.140-5518_140-5503del	NP_001265101.1:n.140-5518_140-5503del
NM_003001.3:c.376_391del , LRG_317t1:c.376_391del	NP_002992.1:p.Tyr126GlyfsTer5
NR_103459.1:n.433_448del
NM_001035511.2:c.242-5518_242-5503del	NP_001030588.1:n.242-5518_242-5503del
NM_001035512.2:c.274_289del	NP_001030589.1:p.Tyr92GlyfsTer5
NM_001035513.2:c.217_232del	NP_001030590.1:p.Tyr73GlyfsTer5
NM_001278172.2:c.140-5518_140-5503del	NP_001265101.1:n.140-5518_140-5503del
NM_003001.5:c.376_391del MANE Select	NP_002992.1:p.Tyr126GlyfsTer5
NR_103459.2:n.428_443del