Canonical Allele Identifier: CA046470

Gene: SDHC

Linked Data

• ClinVar Variation Id: 293316
• ClinVar RCV Id: RCV000313704 ; RCV001718594 ; RCV002255354 ; RCV003940090
• dbSNP Id: rs759481419
• ExAC: 1:161293392 C / CT
• gnomAD v2: 1-161293392-C-CT
• gnomAD v3: 1-161323602-C-CT
• gnomAD v4: 1-161323602-C-CT
• MyVariant Identifiers: chr1:g.161293394dupT (hg19) ; chr1:g.161293392_161293393insT (hg19) ; chr1:g.161323604dupT (hg38) ; chr1:g.161323602_161323603insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161323604dup , CM000663.2:g.161323604dup	GRCh38
NC_000001.10:g.161293394dup , CM000663.1:g.161293394dup	GRCh37
NC_000001.9:g.159560018dup	NCBI36
NG_012767.1:g.14229dup , LRG_317:g.14229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.21-10dup	ENSP00000482902.2:n.21-10dup
ENST00000367975.7:c.21-10dup MANE Select	ENSP00000356953.3:n.21-10dup
ENST00000342751.8:c.21-10dup	ENSP00000356952.3:n.21-10dup
ENST00000367975.6:c.21-10dup	ENSP00000356953.2:n.21-10dup
ENST00000392169.6:c.20+9179dup	ENSP00000376009.2:n.20+9179dup
ENST00000432287.6:c.21-10dup	ENSP00000390558.2:n.21-10dup
ENST00000504963.5:c.21-10dup	ENSP00000423929.1:n.21-10dup
ENST00000513009.5:c.21-10dup	ENSP00000423260.1:n.21-10dup
ENST00000515731.1:n.495-10dup
NM_001035511.1:c.21-10dup	NP_001030588.1:n.21-10dup
NM_001035512.1:c.21-10dup	NP_001030589.1:n.21-10dup
NM_001035513.1:c.20+9179dup	NP_001030590.1:n.20+9179dup
NM_001278172.1:c.21-10dup	NP_001265101.1:n.21-10dup
NM_003001.3:c.21-10dup , LRG_317t1:c.21-10dup	NP_002992.1:n.21-10dup
NR_103459.1:n.51-10dup
NM_001035511.2:c.21-10dup	NP_001030588.1:n.21-10dup
NM_001035512.2:c.21-10dup	NP_001030589.1:n.21-10dup
NM_001035513.2:c.20+9179dup	NP_001030590.1:n.20+9179dup
NM_001278172.2:c.21-10dup	NP_001265101.1:n.21-10dup
NM_003001.5:c.21-10dup MANE Select	NP_002992.1:n.21-10dup
NR_103459.2:n.46-10dup