Canonical Allele Identifier: CA343456529

Gene: SDHC

Linked Data

• ClinVar Variation Id: 574445
• ClinVar RCV Id: RCV000696379
• dbSNP Id: rs1558182863
• MyVariant Identifiers: chr1:g.161326562A>G (hg19) ; chr1:g.161356772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356772A>G , CM000663.2:g.161356772A>G	GRCh38
NC_000001.10:g.161326562A>G , CM000663.1:g.161326562A>G	GRCh37
NC_000001.9:g.159593186A>G	NCBI36
NG_012767.1:g.47397A>G , LRG_317:g.47397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*338A>G	ENSP00000482902.2:n.*338A>G
ENST00000367975.7:c.337A>G MANE Select	ENSP00000356953.3:p.Ile113Val
ENST00000342751.8:c.242-5557A>G	ENSP00000356952.3:n.242-5557A>G
ENST00000367975.6:c.337A>G	ENSP00000356953.2:p.Ile113Val
ENST00000392169.6:c.178A>G	ENSP00000376009.2:p.Ile60Val
ENST00000432287.6:c.235A>G	ENSP00000390558.2:p.Ile79Val
ENST00000470743.4:c.435A>G
ENST00000504963.5:c.*160A>G	ENSP00000423929.1:n.*160A>G
ENST00000513009.5:c.140-5557A>G	ENSP00000423260.1:n.140-5557A>G
NM_001035511.1:c.242-5557A>G	NP_001030588.1:n.242-5557A>G
NM_001035512.1:c.235A>G	NP_001030589.1:p.Ile79Val
NM_001035513.1:c.178A>G	NP_001030590.1:p.Ile60Val
NM_001278172.1:c.140-5557A>G	NP_001265101.1:n.140-5557A>G
NM_003001.3:c.337A>G , LRG_317t1:c.337A>G	NP_002992.1:p.Ile113Val
NR_103459.1:n.394A>G
NM_001035511.2:c.242-5557A>G	NP_001030588.1:n.242-5557A>G
NM_001035512.2:c.235A>G	NP_001030589.1:p.Ile79Val
NM_001035513.2:c.178A>G	NP_001030590.1:p.Ile60Val
NM_001278172.2:c.140-5557A>G	NP_001265101.1:n.140-5557A>G
NM_003001.5:c.337A>G MANE Select	NP_002992.1:p.Ile113Val
NR_103459.2:n.389A>G