Canonical Allele Identifier: CA045699

Gene: SDHC

Linked Data

• ClinVar Variation Id: 239446
• ClinVar RCV Id: RCV000226923 ; RCV000568226 ; RCV000663162 ; RCV001582772 ; RCV003430783 ; RCV003475063
• dbSNP Id: rs772450693
• ExAC: 1:161298227 G / A
• gnomAD v2: 1-161298227-G-A
• gnomAD v3: 1-161328437-G-A
• gnomAD v4: 1-161328437-G-A
• MyVariant Identifiers: chr1:g.161298227G>A (hg19) ; chr1:g.161328437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328437G>A , CM000663.2:g.161328437G>A	GRCh38
NC_000001.10:g.161298227G>A , CM000663.1:g.161298227G>A	GRCh37
NC_000001.9:g.159564851G>A	NCBI36
NG_012767.1:g.19062G>A , LRG_317:g.19062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*120G>A	ENSP00000482902.2:n.*120G>A
ENST00000367975.7:c.119G>A MANE Select	ENSP00000356953.3:p.Arg40Gln
ENST00000342751.8:c.119G>A	ENSP00000356952.3:p.Arg40Gln
ENST00000367975.6:c.119G>A	ENSP00000356953.2:p.Arg40Gln
ENST00000392169.6:c.21-12157G>A	ENSP00000376009.2:n.21-12157G>A
ENST00000432287.6:c.77+4767G>A	ENSP00000390558.2:n.77+4767G>A
ENST00000470743.4:c.217G>A
ENST00000504963.5:c.119G>A	ENSP00000423929.1:p.Arg40Gln
ENST00000513009.5:c.77+4767G>A	ENSP00000423260.1:n.77+4767G>A
ENST00000515731.1:n.593G>A
NM_001035511.1:c.119G>A	NP_001030588.1:p.Arg40Gln
NM_001035512.1:c.77+4767G>A	NP_001030589.1:n.77+4767G>A
NM_001035513.1:c.21-12157G>A	NP_001030590.1:n.21-12157G>A
NM_001278172.1:c.77+4767G>A	NP_001265101.1:n.77+4767G>A
NM_003001.3:c.119G>A , LRG_317t1:c.119G>A	NP_002992.1:p.Arg40Gln
NR_103459.1:n.149G>A
NM_001035511.2:c.119G>A	NP_001030588.1:p.Arg40Gln
NM_001035512.2:c.77+4767G>A	NP_001030589.1:n.77+4767G>A
NM_001035513.2:c.21-12157G>A	NP_001030590.1:n.21-12157G>A
NM_001278172.2:c.77+4767G>A	NP_001265101.1:n.77+4767G>A
NM_003001.5:c.119G>A MANE Select	NP_002992.1:p.Arg40Gln
NR_103459.2:n.144G>A