Canonical Allele Identifier: CA526862039

Gene: SDHC

Linked Data

• dbSNP Id: rs1283715079
• gnomAD v2: 1-161310471-CAT-C
• gnomAD v4: 1-161340681-CAT-C
• MyVariant Identifiers: chr1:g.161310472_161310473del (hg19) ; chr1:g.161340682_161340683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340684_161340685del , CM000663.2:g.161340684_161340685del	GRCh38
NC_000001.10:g.161310474_161310475del , CM000663.1:g.161310474_161310475del	GRCh37
NC_000001.9:g.159577098_159577099del	NCBI36
NG_012767.1:g.31309_31310del , LRG_317:g.31309_31310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*242+29_*242+30del	ENSP00000482902.2:n.*242+29_*242+30del
ENST00000367975.7:c.241+29_241+30del MANE Select	ENSP00000356953.3:n.241+29_241+30del
ENST00000342751.8:c.241+29_241+30del	ENSP00000356952.3:n.241+29_241+30del
ENST00000367975.6:c.241+29_241+30del	ENSP00000356953.2:n.241+29_241+30del
ENST00000392169.6:c.82+29_82+30del	ENSP00000376009.2:n.82+29_82+30del
ENST00000432287.6:c.139+29_139+30del	ENSP00000390558.2:n.139+29_139+30del
ENST00000470743.4:c.339+29_339+30del
ENST00000504963.5:c.*64+29_*64+30del	ENSP00000423929.1:n.*64+29_*64+30del
ENST00000513009.5:c.139+29_139+30del	ENSP00000423260.1:n.139+29_139+30del
NM_001035511.1:c.241+29_241+30del	NP_001030588.1:n.241+29_241+30del
NM_001035512.1:c.139+29_139+30del	NP_001030589.1:n.139+29_139+30del
NM_001035513.1:c.82+29_82+30del	NP_001030590.1:n.82+29_82+30del
NM_001278172.1:c.139+29_139+30del	NP_001265101.1:n.139+29_139+30del
NM_003001.3:c.241+29_241+30del , LRG_317t1:c.241+29_241+30del	NP_002992.1:n.241+29_241+30del
NR_103459.1:n.298+29_298+30del
NM_001035511.2:c.241+29_241+30del	NP_001030588.1:n.241+29_241+30del
NM_001035512.2:c.139+29_139+30del	NP_001030589.1:n.139+29_139+30del
NM_001035513.2:c.82+29_82+30del	NP_001030590.1:n.82+29_82+30del
NM_001278172.2:c.139+29_139+30del	NP_001265101.1:n.139+29_139+30del
NM_003001.5:c.241+29_241+30del MANE Select	NP_002992.1:n.241+29_241+30del
NR_103459.2:n.293+29_293+30del