Canonical Allele Identifier: CA011435

Gene: SDHC

Linked Data

• ClinVar Variation Id: 187084
• ClinVar RCV Id: RCV000166772 ; RCV000478217 ; RCV000641906 ; RCV001523820 ; RCV004019988 ; RCV003995530
• dbSNP Id: rs786203457
• gnomAD v2: 1-161326605-A-G
• gnomAD v3: 1-161356815-A-G
• gnomAD v4: 1-161356815-A-G
• MyVariant Identifiers: chr1:g.161326605A>G (hg19) ; chr1:g.161356815A>G (hg38)
• PubMed: PMID:19332149 ; PMID:23162105 ; PMID:23282968 ; PMID:23666964 ; PMID:24096523 ; PMID:24150194 ; PMID:24625421 ; PMID:25025441 ; PMID:25394176 ; PMID:25494863

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356815A>G , CM000663.2:g.161356815A>G	GRCh38
NC_000001.10:g.161326605A>G , CM000663.1:g.161326605A>G	GRCh37
NC_000001.9:g.159593229A>G	NCBI36
NG_012767.1:g.47440A>G , LRG_317:g.47440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*381A>G	ENSP00000482902.2:n.*381A>G
ENST00000367975.7:c.380A>G MANE Select	ENSP00000356953.3:p.His127Arg
ENST00000342751.8:c.242-5514A>G	ENSP00000356952.3:n.242-5514A>G
ENST00000367975.6:c.380A>G	ENSP00000356953.2:p.His127Arg
ENST00000392169.6:c.221A>G	ENSP00000376009.2:p.His74Arg
ENST00000432287.6:c.278A>G	ENSP00000390558.2:p.His93Arg
ENST00000470743.4:c.478A>G
ENST00000504963.5:c.*203A>G	ENSP00000423929.1:n.*203A>G
ENST00000513009.5:c.140-5514A>G	ENSP00000423260.1:n.140-5514A>G
NM_001035511.1:c.242-5514A>G	NP_001030588.1:n.242-5514A>G
NM_001035512.1:c.278A>G	NP_001030589.1:p.His93Arg
NM_001035513.1:c.221A>G	NP_001030590.1:p.His74Arg
NM_001278172.1:c.140-5514A>G	NP_001265101.1:n.140-5514A>G
NM_003001.3:c.380A>G , LRG_317t1:c.380A>G	NP_002992.1:p.His127Arg
NR_103459.1:n.437A>G
NM_001035511.2:c.242-5514A>G	NP_001030588.1:n.242-5514A>G
NM_001035512.2:c.278A>G	NP_001030589.1:p.His93Arg
NM_001035513.2:c.221A>G	NP_001030590.1:p.His74Arg
NM_001278172.2:c.140-5514A>G	NP_001265101.1:n.140-5514A>G
NM_003001.5:c.380A>G MANE Select	NP_002992.1:p.His127Arg
NR_103459.2:n.432A>G