Canonical Allele Identifier: CA343456707

Gene: SDHC

Linked Data

• ClinVar Variation Id: 978229
• ClinVar RCV Id: RCV001256199 ; RCV001257556 ; RCV001879958
• dbSNP Id: rs1672294906
• MyVariant Identifiers: chr1:g.161326611G>A (hg19) ; chr1:g.161356821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356821G>A , CM000663.2:g.161356821G>A	GRCh38
NC_000001.10:g.161326611G>A , CM000663.1:g.161326611G>A	GRCh37
NC_000001.9:g.159593235G>A	NCBI36
NG_012767.1:g.47446G>A , LRG_317:g.47446G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*387G>A	ENSP00000482902.2:n.*387G>A
ENST00000367975.7:c.386G>A MANE Select	ENSP00000356953.3:p.Trp129Ter
ENST00000342751.8:c.242-5508G>A	ENSP00000356952.3:n.242-5508G>A
ENST00000367975.6:c.386G>A	ENSP00000356953.2:p.Trp129Ter
ENST00000392169.6:c.227G>A	ENSP00000376009.2:p.Trp76Ter
ENST00000432287.6:c.284G>A	ENSP00000390558.2:p.Trp95Ter
ENST00000470743.4:c.484G>A
ENST00000504963.5:c.*209G>A	ENSP00000423929.1:n.*209G>A
ENST00000513009.5:c.140-5508G>A	ENSP00000423260.1:n.140-5508G>A
NM_001035511.1:c.242-5508G>A	NP_001030588.1:n.242-5508G>A
NM_001035512.1:c.284G>A	NP_001030589.1:p.Trp95Ter
NM_001035513.1:c.227G>A	NP_001030590.1:p.Trp76Ter
NM_001278172.1:c.140-5508G>A	NP_001265101.1:n.140-5508G>A
NM_003001.3:c.386G>A , LRG_317t1:c.386G>A	NP_002992.1:p.Trp129Ter
NR_103459.1:n.443G>A
NM_001035511.2:c.242-5508G>A	NP_001030588.1:n.242-5508G>A
NM_001035512.2:c.284G>A	NP_001030589.1:p.Trp95Ter
NM_001035513.2:c.227G>A	NP_001030590.1:p.Trp76Ter
NM_001278172.2:c.140-5508G>A	NP_001265101.1:n.140-5508G>A
NM_003001.5:c.386G>A MANE Select	NP_002992.1:p.Trp129Ter
NR_103459.2:n.438G>A