Canonical Allele Identifier: CA343456686

Gene: SDHC

Linked Data

• ClinVar Variation Id: 835716
• ClinVar RCV Id: RCV001036663 ; RCV002354978
• dbSNP Id: rs1485675090
• gnomAD v4: 1-161356814-C-T
• MyVariant Identifiers: chr1:g.161326604C>T (hg19) ; chr1:g.161356814C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*380C>T	ENSP00000482902.2:n.*380C>T
ENST00000367975.7:c.379C>T MANE Select	ENSP00000356953.3:p.His127Tyr
ENST00000342751.8:c.242-5515C>T	ENSP00000356952.3:n.242-5515C>T
ENST00000367975.6:c.379C>T	ENSP00000356953.2:p.His127Tyr
ENST00000392169.6:c.220C>T	ENSP00000376009.2:p.His74Tyr
ENST00000432287.6:c.277C>T	ENSP00000390558.2:p.His93Tyr
ENST00000470743.4:c.477C>T
ENST00000504963.5:c.*202C>T	ENSP00000423929.1:n.*202C>T
ENST00000513009.5:c.140-5515C>T	ENSP00000423260.1:n.140-5515C>T
NM_001035511.1:c.242-5515C>T	NP_001030588.1:n.242-5515C>T
NM_001035512.1:c.277C>T	NP_001030589.1:p.His93Tyr
NM_001035513.1:c.220C>T	NP_001030590.1:p.His74Tyr
NM_001278172.1:c.140-5515C>T	NP_001265101.1:n.140-5515C>T
NM_003001.3:c.379C>T , LRG_317t1:c.379C>T	NP_002992.1:p.His127Tyr
NR_103459.1:n.436C>T
NM_001035511.2:c.242-5515C>T	NP_001030588.1:n.242-5515C>T
NM_001035512.2:c.277C>T	NP_001030589.1:p.His93Tyr
NM_001035513.2:c.220C>T	NP_001030590.1:p.His74Tyr
NM_001278172.2:c.140-5515C>T	NP_001265101.1:n.140-5515C>T
NM_003001.5:c.379C>T MANE Select	NP_002992.1:p.His127Tyr
NR_103459.2:n.431C>T