Canonical Allele Identifier: CA10577666
Gene: SDHC HGNC NCBI

Linked Data

ClinVar Variation Id: 229958
ClinVar RCV Id: RCV000215996
dbSNP Id: rs876658301

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161356811dup , CM000663.2:g.161356811dup GRCh38
NC_000001.10:g.161326601dup , CM000663.1:g.161326601dup GRCh37
NC_000001.9:g.159593225dup NCBI36
NG_012767.1:g.47436dup , LRG_317:g.47436dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470743.5:c.*377dup ENSP00000482902.2:n.*377dup
ENST00000367975.7:c.376dup MANE Select ENSP00000356953.3:p.Tyr126LeufsTer?
ENST00000342751.8:c.242-5518dup ENSP00000356952.3:n.242-5518dup
ENST00000367975.6:c.376dup ENSP00000356953.2:p.Tyr126LeufsTer?
ENST00000392169.6:c.217dup ENSP00000376009.2:p.Tyr73LeufsTer?
ENST00000432287.6:c.274dup ENSP00000390558.2:p.Tyr92LeufsTer?
ENST00000470743.4:c.474dup
ENST00000504963.5:c.*199dup ENSP00000423929.1:n.*199dup
ENST00000513009.5:c.140-5518dup ENSP00000423260.1:n.140-5518dup
NM_001035511.1:c.242-5518dup NP_001030588.1:n.242-5518dup
NM_001035512.1:c.274dup NP_001030589.1:p.Tyr92LeufsTer?
NM_001035513.1:c.217dup NP_001030590.1:p.Tyr73LeufsTer?
NM_001278172.1:c.140-5518dup NP_001265101.1:n.140-5518dup
NM_003001.3:c.376dup , LRG_317t1:c.376dup NP_002992.1:p.Tyr126LeufsTer?
NR_103459.1:n.433dup
NM_001035511.2:c.242-5518dup NP_001030588.1:n.242-5518dup
NM_001035512.2:c.274dup NP_001030589.1:p.Tyr92LeufsTer?
NM_001035513.2:c.217dup NP_001030590.1:p.Tyr73LeufsTer?
NM_001278172.2:c.140-5518dup NP_001265101.1:n.140-5518dup
NM_003001.5:c.376dup MANE Select NP_002992.1:p.Tyr126LeufsTer?
NR_103459.2:n.428dup