Canonical Allele Identifier: CA343456684

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1677290
• ClinVar RCV Id: RCV002223159 ; RCV002352956 ; RCV003101258 ; RCV004005530
• dbSNP Id: rs1485675090
• MyVariant Identifiers: chr1:g.161326604C>G (hg19) ; chr1:g.161356814C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356814C>G , CM000663.2:g.161356814C>G	GRCh38
NC_000001.10:g.161326604C>G , CM000663.1:g.161326604C>G	GRCh37
NC_000001.9:g.159593228C>G	NCBI36
NG_012767.1:g.47439C>G , LRG_317:g.47439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*380C>G	ENSP00000482902.2:n.*380C>G
ENST00000367975.7:c.379C>G MANE Select	ENSP00000356953.3:p.His127Asp
ENST00000342751.8:c.242-5515C>G	ENSP00000356952.3:n.242-5515C>G
ENST00000367975.6:c.379C>G	ENSP00000356953.2:p.His127Asp
ENST00000392169.6:c.220C>G	ENSP00000376009.2:p.His74Asp
ENST00000432287.6:c.277C>G	ENSP00000390558.2:p.His93Asp
ENST00000470743.4:c.477C>G
ENST00000504963.5:c.*202C>G	ENSP00000423929.1:n.*202C>G
ENST00000513009.5:c.140-5515C>G	ENSP00000423260.1:n.140-5515C>G
NM_001035511.1:c.242-5515C>G	NP_001030588.1:n.242-5515C>G
NM_001035512.1:c.277C>G	NP_001030589.1:p.His93Asp
NM_001035513.1:c.220C>G	NP_001030590.1:p.His74Asp
NM_001278172.1:c.140-5515C>G	NP_001265101.1:n.140-5515C>G
NM_003001.3:c.379C>G , LRG_317t1:c.379C>G	NP_002992.1:p.His127Asp
NR_103459.1:n.436C>G
NM_001035511.2:c.242-5515C>G	NP_001030588.1:n.242-5515C>G
NM_001035512.2:c.277C>G	NP_001030589.1:p.His93Asp
NM_001035513.2:c.220C>G	NP_001030590.1:p.His74Asp
NM_001278172.2:c.140-5515C>G	NP_001265101.1:n.140-5515C>G
NM_003001.5:c.379C>G MANE Select	NP_002992.1:p.His127Asp
NR_103459.2:n.431C>G