Canonical Allele Identifier: CA658795560

Gene: SDHC

Linked Data

• ClinVar Variation Id: 534368
• ClinVar RCV Id: RCV000641907
• dbSNP Id: rs1553264218
• MyVariant Identifiers: chr1:g.161310419del (hg19) ; chr1:g.161340629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340629del , CM000663.2:g.161340629del	GRCh38
NC_000001.10:g.161310419del , CM000663.1:g.161310419del	GRCh37
NC_000001.9:g.159577043del	NCBI36
NG_012767.1:g.31254del , LRG_317:g.31254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*216del	ENSP00000482902.2:n.*216del
ENST00000367975.7:c.215del MANE Select	ENSP00000356953.3:p.Arg72LeufsTer7
ENST00000342751.8:c.215del	ENSP00000356952.3:p.Arg72LeufsTer7
ENST00000367975.6:c.215del	ENSP00000356953.2:p.Arg72LeufsTer7
ENST00000392169.6:c.56del	ENSP00000376009.2:p.Arg19LeufsTer7
ENST00000432287.6:c.113del	ENSP00000390558.2:p.Arg38LeufsTer7
ENST00000470743.4:c.313del
ENST00000504963.5:c.*38del	ENSP00000423929.1:n.*38del
ENST00000513009.5:c.113del	ENSP00000423260.1:p.Arg38LeufsTer7
NM_001035511.1:c.215del	NP_001030588.1:p.Arg72LeufsTer7
NM_001035512.1:c.113del	NP_001030589.1:p.Arg38LeufsTer7
NM_001035513.1:c.56del	NP_001030590.1:p.Arg19LeufsTer7
NM_001278172.1:c.113del	NP_001265101.1:p.Arg38LeufsTer7
NM_003001.3:c.215del , LRG_317t1:c.215del	NP_002992.1:p.Arg72LeufsTer7
NR_103459.1:n.272del
NM_001035511.2:c.215del	NP_001030588.1:p.Arg72LeufsTer7
NM_001035512.2:c.113del	NP_001030589.1:p.Arg38LeufsTer7
NM_001035513.2:c.56del	NP_001030590.1:p.Arg19LeufsTer7
NM_001278172.2:c.113del	NP_001265101.1:p.Arg38LeufsTer7
NM_003001.5:c.215del MANE Select	NP_002992.1:p.Arg72LeufsTer7
NR_103459.2:n.267del