Canonical Allele Identifier: CA2580611504

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1160126
• ClinVar RCV Id: RCV001504099
• dbSNP Id: rs1571869349
• gnomAD v4: 1-161340660-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340664_161340665del , CM000663.2:g.161340664_161340665del	GRCh38
NC_000001.10:g.161310454_161310455del , CM000663.1:g.161310454_161310455del	GRCh37
NC_000001.9:g.159577078_159577079del	NCBI36
NG_012767.1:g.31289_31290del , LRG_317:g.31289_31290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*242+9_*242+10del	ENSP00000482902.2:n.*242+9_*242+10del
ENST00000367975.7:c.241+9_241+10del MANE Select	ENSP00000356953.3:n.241+9_241+10del
ENST00000342751.8:c.241+9_241+10del	ENSP00000356952.3:n.241+9_241+10del
ENST00000367975.6:c.241+9_241+10del	ENSP00000356953.2:n.241+9_241+10del
ENST00000392169.6:c.82+9_82+10del	ENSP00000376009.2:n.82+9_82+10del
ENST00000432287.6:c.139+9_139+10del	ENSP00000390558.2:n.139+9_139+10del
ENST00000470743.4:c.339+9_339+10del
ENST00000504963.5:c.*64+9_*64+10del	ENSP00000423929.1:n.*64+9_*64+10del
ENST00000513009.5:c.139+9_139+10del	ENSP00000423260.1:n.139+9_139+10del
NM_001035511.1:c.241+9_241+10del	NP_001030588.1:n.241+9_241+10del
NM_001035512.1:c.139+9_139+10del	NP_001030589.1:n.139+9_139+10del
NM_001035513.1:c.82+9_82+10del	NP_001030590.1:n.82+9_82+10del
NM_001278172.1:c.139+9_139+10del	NP_001265101.1:n.139+9_139+10del
NM_003001.3:c.241+9_241+10del , LRG_317t1:c.241+9_241+10del	NP_002992.1:n.241+9_241+10del
NR_103459.1:n.298+9_298+10del
NM_001035511.2:c.241+9_241+10del	NP_001030588.1:n.241+9_241+10del
NM_001035512.2:c.139+9_139+10del	NP_001030589.1:n.139+9_139+10del
NM_001035513.2:c.82+9_82+10del	NP_001030590.1:n.82+9_82+10del
NM_001278172.2:c.139+9_139+10del	NP_001265101.1:n.139+9_139+10del
NM_003001.5:c.241+9_241+10del MANE Select	NP_002992.1:n.241+9_241+10del
NR_103459.2:n.293+9_293+10del