Canonical Allele Identifier: CA343361311

Gene: SDHC

Linked Data

• ClinVar Variation Id: 534375
• ClinVar RCV Id: RCV000641919 ; RCV003162892
• dbSNP Id: rs1363555121
• gnomAD v2: 1-161298274-A-C
• gnomAD v4: 1-161328484-A-C
• MyVariant Identifiers: chr1:g.161298274A>C (hg19) ; chr1:g.161328484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328484A>C , CM000663.2:g.161328484A>C	GRCh38
NC_000001.10:g.161298274A>C , CM000663.1:g.161298274A>C	GRCh37
NC_000001.9:g.159564898A>C	NCBI36
NG_012767.1:g.19109A>C , LRG_317:g.19109A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*167A>C	ENSP00000482902.2:n.*167A>C
ENST00000367975.7:c.166A>C MANE Select	ENSP00000356953.3:p.Ile56Leu
ENST00000342751.8:c.166A>C	ENSP00000356952.3:p.Ile56Leu
ENST00000367975.6:c.166A>C	ENSP00000356953.2:p.Ile56Leu
ENST00000392169.6:c.21-12110A>C	ENSP00000376009.2:n.21-12110A>C
ENST00000432287.6:c.77+4814A>C	ENSP00000390558.2:n.77+4814A>C
ENST00000470743.4:c.264A>C
ENST00000504963.5:c.166A>C	ENSP00000423929.1:p.Ile56Leu
ENST00000513009.5:c.77+4814A>C	ENSP00000423260.1:n.77+4814A>C
ENST00000515731.1:n.640A>C
NM_001035511.1:c.166A>C	NP_001030588.1:p.Ile56Leu
NM_001035512.1:c.77+4814A>C	NP_001030589.1:n.77+4814A>C
NM_001035513.1:c.21-12110A>C	NP_001030590.1:n.21-12110A>C
NM_001278172.1:c.77+4814A>C	NP_001265101.1:n.77+4814A>C
NM_003001.3:c.166A>C , LRG_317t1:c.166A>C	NP_002992.1:p.Ile56Leu
NR_103459.1:n.196A>C
NM_001035511.2:c.166A>C	NP_001030588.1:p.Ile56Leu
NM_001035512.2:c.77+4814A>C	NP_001030589.1:n.77+4814A>C
NM_001035513.2:c.21-12110A>C	NP_001030590.1:n.21-12110A>C
NM_001278172.2:c.77+4814A>C	NP_001265101.1:n.77+4814A>C
NM_003001.5:c.166A>C MANE Select	NP_002992.1:p.Ile56Leu
NR_103459.2:n.191A>C