Canonical Allele Identifier: CA1139655527
Gene: SDHC HGNC NCBI

Linked Data

ClinVar Variation Id: 968515
ClinVar RCV Id: RCV001243668
dbSNP Id: rs1671156558

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161328489_161328512del , CM000663.2:g.161328489_161328512del GRCh38
NC_000001.10:g.161298279_161298302del , CM000663.1:g.161298279_161298302del GRCh37
NC_000001.9:g.159564903_159564926del NCBI36
NG_012767.1:g.19114_19137del , LRG_317:g.19114_19137del

Transcript Alleles

HGVS Amino-acid change
ENST00000470743.5:c.*172_*180+15del
ENST00000367975.7:c.171_179+15del
ENST00000342751.8:c.171_179+15del
ENST00000367975.6:c.171_179+15del
ENST00000392169.6:c.21-12105_21-12082del ENSP00000376009.2:n.21-12105_21-12082del
ENST00000432287.6:c.77+4819_77+4842del ENSP00000390558.2:n.77+4819_77+4842del
ENST00000470743.4:c.269_277+15del
ENST00000504963.5:c.171_179+15del
ENST00000513009.5:c.77+4819_77+4842del ENSP00000423260.1:n.77+4819_77+4842del
NM_001035511.1:c.171_179+15del
NM_001035512.1:c.77+4819_77+4842del NP_001030589.1:n.77+4819_77+4842del
NM_001035513.1:c.21-12105_21-12082del NP_001030590.1:n.21-12105_21-12082del
NM_001278172.1:c.77+4819_77+4842del NP_001265101.1:n.77+4819_77+4842del
NM_003001.3:c.171_179+15del , LRG_317t1:c.171_179+15del
NR_103459.1:n.201_209+15del
NM_001035511.2:c.171_179+15del
NM_001035512.2:c.77+4819_77+4842del NP_001030589.1:n.77+4819_77+4842del
NM_001035513.2:c.21-12105_21-12082del NP_001030590.1:n.21-12105_21-12082del
NM_001278172.2:c.77+4819_77+4842del NP_001265101.1:n.77+4819_77+4842del
NM_003001.5:c.171_179+15del
NR_103459.2:n.196_204+15del