Canonical Allele Identifier: CA047136

Gene: SDHC

Linked Data

• ClinVar Variation Id: 239453
• ClinVar RCV Id: RCV000231142 ; RCV000482240 ; RCV002256145 ; RCV003475064 ; RCV003507270 ; RCV003998863
• dbSNP Id: rs760678574
• ExAC: 1:161326520 T / C
• gnomAD v2: 1-161326520-T-C
• gnomAD v3: 1-161356730-T-C
• gnomAD v4: 1-161356730-T-C
• MyVariant Identifiers: chr1:g.161326520T>C (hg19) ; chr1:g.161356730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356730T>C , CM000663.2:g.161356730T>C	GRCh38
NC_000001.10:g.161326520T>C , CM000663.1:g.161326520T>C	GRCh37
NC_000001.9:g.159593144T>C	NCBI36
NG_012767.1:g.47355T>C , LRG_317:g.47355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*296T>C	ENSP00000482902.2:n.*296T>C
ENST00000367975.7:c.295T>C MANE Select	ENSP00000356953.3:p.Tyr99His
ENST00000342751.8:c.242-5599T>C	ENSP00000356952.3:n.242-5599T>C
ENST00000367975.6:c.295T>C	ENSP00000356953.2:p.Tyr99His
ENST00000392169.6:c.136T>C	ENSP00000376009.2:p.Tyr46His
ENST00000432287.6:c.193T>C	ENSP00000390558.2:p.Tyr65His
ENST00000470743.4:c.393T>C
ENST00000504963.5:c.*118T>C	ENSP00000423929.1:n.*118T>C
ENST00000513009.5:c.140-5599T>C	ENSP00000423260.1:n.140-5599T>C
NM_001035511.1:c.242-5599T>C	NP_001030588.1:n.242-5599T>C
NM_001035512.1:c.193T>C	NP_001030589.1:p.Tyr65His
NM_001035513.1:c.136T>C	NP_001030590.1:p.Tyr46His
NM_001278172.1:c.140-5599T>C	NP_001265101.1:n.140-5599T>C
NM_003001.3:c.295T>C , LRG_317t1:c.295T>C	NP_002992.1:p.Tyr99His
NR_103459.1:n.352T>C
NM_001035511.2:c.242-5599T>C	NP_001030588.1:n.242-5599T>C
NM_001035512.2:c.193T>C	NP_001030589.1:p.Tyr65His
NM_001035513.2:c.136T>C	NP_001030590.1:p.Tyr46His
NM_001278172.2:c.140-5599T>C	NP_001265101.1:n.140-5599T>C
NM_003001.5:c.295T>C MANE Select	NP_002992.1:p.Tyr99His
NR_103459.2:n.347T>C