Canonical Allele Identifier: CA011533

Gene: SDHC

Linked Data

• ClinVar Variation Id: 187333
• ClinVar RCV Id: RCV000167052 ; RCV000477280 ; RCV001657929 ; RCV003474886 ; RCV003995552
• dbSNP Id: rs767802663
• ExAC: 1:161293415 G / T
• gnomAD v2: 1-161293415-G-T
• gnomAD v3: 1-161323625-G-T
• gnomAD v4: 1-161323625-G-T
• MyVariant Identifiers: chr1:g.161293415G>T (hg19) ; chr1:g.161323625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161323625G>T , CM000663.2:g.161323625G>T	GRCh38
NC_000001.10:g.161293415G>T , CM000663.1:g.161293415G>T	GRCh37
NC_000001.9:g.159560039G>T	NCBI36
NG_012767.1:g.14250G>T , LRG_317:g.14250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.32G>T	ENSP00000482902.2:p.Arg11Leu
ENST00000367975.7:c.32G>T MANE Select	ENSP00000356953.3:p.Arg11Leu
ENST00000342751.8:c.32G>T	ENSP00000356952.3:p.Arg11Leu
ENST00000367975.6:c.32G>T	ENSP00000356953.2:p.Arg11Leu
ENST00000392169.6:c.20+9200G>T	ENSP00000376009.2:n.20+9200G>T
ENST00000432287.6:c.32G>T	ENSP00000390558.2:p.Arg11Leu
ENST00000470743.4:c.12G>T
ENST00000504963.5:c.32G>T	ENSP00000423929.1:p.Arg11Leu
ENST00000513009.5:c.32G>T	ENSP00000423260.1:p.Arg11Leu
ENST00000515731.1:n.506G>T
NM_001035511.1:c.32G>T	NP_001030588.1:p.Arg11Leu
NM_001035512.1:c.32G>T	NP_001030589.1:p.Arg11Leu
NM_001035513.1:c.20+9200G>T	NP_001030590.1:n.20+9200G>T
NM_001278172.1:c.32G>T	NP_001265101.1:p.Arg11Leu
NM_003001.3:c.32G>T , LRG_317t1:c.32G>T	NP_002992.1:p.Arg11Leu
NR_103459.1:n.62G>T
NM_001035511.2:c.32G>T	NP_001030588.1:p.Arg11Leu
NM_001035512.2:c.32G>T	NP_001030589.1:p.Arg11Leu
NM_001035513.2:c.20+9200G>T	NP_001030590.1:n.20+9200G>T
NM_001278172.2:c.32G>T	NP_001265101.1:p.Arg11Leu
NM_003001.5:c.32G>T MANE Select	NP_002992.1:p.Arg11Leu
NR_103459.2:n.57G>T