Canonical Allele Identifier: CA16609905

Gene: SDHC

Linked Data

• ClinVar Variation Id: 407059
• ClinVar RCV Id: RCV000477028 ; RCV001770321
• dbSNP Id: rs981049067
• gnomAD v4: 1-161356822-G-C
• MyVariant Identifiers: chr1:g.161326612G>C (hg19) ; chr1:g.161356822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356822G>C , CM000663.2:g.161356822G>C	GRCh38
NC_000001.10:g.161326612G>C , CM000663.1:g.161326612G>C	GRCh37
NC_000001.9:g.159593236G>C	NCBI36
NG_012767.1:g.47447G>C , LRG_317:g.47447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*388G>C	ENSP00000482902.2:n.*388G>C
ENST00000367975.7:c.387G>C MANE Select	ENSP00000356953.3:p.Trp129Cys
ENST00000342751.8:c.242-5507G>C	ENSP00000356952.3:n.242-5507G>C
ENST00000367975.6:c.387G>C	ENSP00000356953.2:p.Trp129Cys
ENST00000392169.6:c.228G>C	ENSP00000376009.2:p.Trp76Cys
ENST00000432287.6:c.285G>C	ENSP00000390558.2:p.Trp95Cys
ENST00000470743.4:c.485G>C
ENST00000504963.5:c.*210G>C	ENSP00000423929.1:n.*210G>C
ENST00000513009.5:c.140-5507G>C	ENSP00000423260.1:n.140-5507G>C
NM_001035511.1:c.242-5507G>C	NP_001030588.1:n.242-5507G>C
NM_001035512.1:c.285G>C	NP_001030589.1:p.Trp95Cys
NM_001035513.1:c.228G>C	NP_001030590.1:p.Trp76Cys
NM_001278172.1:c.140-5507G>C	NP_001265101.1:n.140-5507G>C
NM_003001.3:c.387G>C , LRG_317t1:c.387G>C	NP_002992.1:p.Trp129Cys
NR_103459.1:n.444G>C
NM_001035511.2:c.242-5507G>C	NP_001030588.1:n.242-5507G>C
NM_001035512.2:c.285G>C	NP_001030589.1:p.Trp95Cys
NM_001035513.2:c.228G>C	NP_001030590.1:p.Trp76Cys
NM_001278172.2:c.140-5507G>C	NP_001265101.1:n.140-5507G>C
NM_003001.5:c.387G>C MANE Select	NP_002992.1:p.Trp129Cys
NR_103459.2:n.439G>C