Canonical Allele Identifier: CA2573131198

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1553877
• ClinVar RCV Id: RCV002189902
• dbSNP Id: rs2102308128
• gnomAD v4: 1-161328504-AAGGATTCTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328507_161328516del , CM000663.2:g.161328507_161328516del	GRCh38
NC_000001.10:g.161298297_161298306del , CM000663.1:g.161298297_161298306del	GRCh37
NC_000001.9:g.159564921_159564930del	NCBI36
NG_012767.1:g.19132_19141del , LRG_317:g.19132_19141del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*180+10_*180+19del	ENSP00000482902.2:n.*180+10_*180+19del
ENST00000367975.7:c.179+10_179+19del MANE Select	ENSP00000356953.3:n.179+10_179+19del
ENST00000342751.8:c.179+10_179+19del	ENSP00000356952.3:n.179+10_179+19del
ENST00000367975.6:c.179+10_179+19del	ENSP00000356953.2:n.179+10_179+19del
ENST00000392169.6:c.21-12087_21-12078del	ENSP00000376009.2:n.21-12087_21-12078del
ENST00000432287.6:c.77+4837_77+4846del	ENSP00000390558.2:n.77+4837_77+4846del
ENST00000470743.4:c.277+10_277+19del
ENST00000504963.5:c.179+10_179+19del	ENSP00000423929.1:n.179+10_179+19del
ENST00000513009.5:c.77+4837_77+4846del	ENSP00000423260.1:n.77+4837_77+4846del
NM_001035511.1:c.179+10_179+19del	NP_001030588.1:n.179+10_179+19del
NM_001035512.1:c.77+4837_77+4846del	NP_001030589.1:n.77+4837_77+4846del
NM_001035513.1:c.21-12087_21-12078del	NP_001030590.1:n.21-12087_21-12078del
NM_001278172.1:c.77+4837_77+4846del	NP_001265101.1:n.77+4837_77+4846del
NM_003001.3:c.179+10_179+19del , LRG_317t1:c.179+10_179+19del	NP_002992.1:n.179+10_179+19del
NR_103459.1:n.209+10_209+19del
NM_001035511.2:c.179+10_179+19del	NP_001030588.1:n.179+10_179+19del
NM_001035512.2:c.77+4837_77+4846del	NP_001030589.1:n.77+4837_77+4846del
NM_001035513.2:c.21-12087_21-12078del	NP_001030590.1:n.21-12087_21-12078del
NM_001278172.2:c.77+4837_77+4846del	NP_001265101.1:n.77+4837_77+4846del
NM_003001.5:c.179+10_179+19del MANE Select	NP_002992.1:n.179+10_179+19del
NR_103459.2:n.204+10_204+19del