Canonical Allele Identifier: CA016245

Gene: SDHC

Linked Data

• ClinVar Variation Id: 189841
• ClinVar RCV Id: RCV000170332 ; RCV000564191 ; RCV000688261
• dbSNP Id: rs786205147
• gnomAD v4: 1-161340638-G-A
• MyVariant Identifiers: chr1:g.161310428G>A (hg19) ; chr1:g.161340638G>A (hg38)
• PubMed: PMID:19351833 ; PMID:24886695

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340638G>A , CM000663.2:g.161340638G>A	GRCh38
NC_000001.10:g.161310428G>A , CM000663.1:g.161310428G>A	GRCh37
NC_000001.9:g.159577052G>A	NCBI36
NG_012767.1:g.31263G>A , LRG_317:g.31263G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*225G>A	ENSP00000482902.2:n.*225G>A
ENST00000367975.7:c.224G>A MANE Select	ENSP00000356953.3:p.Gly75Asp
ENST00000342751.8:c.224G>A	ENSP00000356952.3:p.Gly75Asp
ENST00000367975.6:c.224G>A	ENSP00000356953.2:p.Gly75Asp
ENST00000392169.6:c.65G>A	ENSP00000376009.2:p.Gly22Asp
ENST00000432287.6:c.122G>A	ENSP00000390558.2:p.Gly41Asp
ENST00000470743.4:c.322G>A
ENST00000504963.5:c.*47G>A	ENSP00000423929.1:n.*47G>A
ENST00000513009.5:c.122G>A	ENSP00000423260.1:p.Gly41Asp
NM_001035511.1:c.224G>A	NP_001030588.1:p.Gly75Asp
NM_001035512.1:c.122G>A	NP_001030589.1:p.Gly41Asp
NM_001035513.1:c.65G>A	NP_001030590.1:p.Gly22Asp
NM_001278172.1:c.122G>A	NP_001265101.1:p.Gly41Asp
NM_003001.3:c.224G>A , LRG_317t1:c.224G>A	NP_002992.1:p.Gly75Asp
NR_103459.1:n.281G>A
NM_001035511.2:c.224G>A	NP_001030588.1:p.Gly75Asp
NM_001035512.2:c.122G>A	NP_001030589.1:p.Gly41Asp
NM_001035513.2:c.65G>A	NP_001030590.1:p.Gly22Asp
NM_001278172.2:c.122G>A	NP_001265101.1:p.Gly41Asp
NM_003001.5:c.224G>A MANE Select	NP_002992.1:p.Gly75Asp
NR_103459.2:n.276G>A