Canonical Allele Identifier: CA526962068

Gene: SDHC

Linked Data

• dbSNP Id: rs199612101
• gnomAD v2: 1-161326722-C-CTT
• gnomAD v3: 1-161356932-C-CTT
• gnomAD v4: 1-161356932-C-CTT
• MyVariant Identifiers: chr1:g.161326723_161326724insTT (hg19) ; chr1:g.161326722_161326723insTT (hg19) ; chr1:g.161356933_161356934insTT (hg38) ; chr1:g.161356932_161356933insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356943_161356944dup , CM000663.2:g.161356943_161356944dup	GRCh38
NC_000001.10:g.161326733_161326734dup , CM000663.1:g.161326733_161326734dup	GRCh37
NC_000001.9:g.159593357_159593358dup	NCBI36
NG_012767.1:g.47568_47569dup , LRG_317:g.47568_47569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*406+103_*406+104dup	ENSP00000482902.2:n.*406+103_*406+104dup
ENST00000367975.7:c.405+103_405+104dup MANE Select	ENSP00000356953.3:n.405+103_405+104dup
ENST00000342751.8:c.242-5386_242-5385dup	ENSP00000356952.3:n.242-5386_242-5385dup
ENST00000367975.6:c.405+103_405+104dup	ENSP00000356953.2:n.405+103_405+104dup
ENST00000392169.6:c.246+103_246+104dup	ENSP00000376009.2:n.246+103_246+104dup
ENST00000432287.6:c.303+103_303+104dup	ENSP00000390558.2:n.303+103_303+104dup
ENST00000470743.4:c.503+103_503+104dup
ENST00000504963.5:c.*228+103_*228+104dup	ENSP00000423929.1:n.*228+103_*228+104dup
ENST00000513009.5:c.140-5386_140-5385dup	ENSP00000423260.1:n.140-5386_140-5385dup
NM_001035511.1:c.242-5386_242-5385dup	NP_001030588.1:n.242-5386_242-5385dup
NM_001035512.1:c.303+103_303+104dup	NP_001030589.1:n.303+103_303+104dup
NM_001035513.1:c.246+103_246+104dup	NP_001030590.1:n.246+103_246+104dup
NM_001278172.1:c.140-5386_140-5385dup	NP_001265101.1:n.140-5386_140-5385dup
NM_003001.3:c.405+103_405+104dup , LRG_317t1:c.405+103_405+104dup	NP_002992.1:n.405+103_405+104dup
NR_103459.1:n.462+103_462+104dup
NM_001035511.2:c.242-5386_242-5385dup	NP_001030588.1:n.242-5386_242-5385dup
NM_001035512.2:c.303+103_303+104dup	NP_001030589.1:n.303+103_303+104dup
NM_001035513.2:c.246+103_246+104dup	NP_001030590.1:n.246+103_246+104dup
NM_001278172.2:c.140-5386_140-5385dup	NP_001265101.1:n.140-5386_140-5385dup
NM_003001.5:c.405+103_405+104dup MANE Select	NP_002992.1:n.405+103_405+104dup
NR_103459.2:n.457+103_457+104dup