Canonical Allele Identifier: CA343456631

Gene: SDHC

Linked Data

• ClinVar Variation Id: 534371
• ClinVar RCV Id: RCV000641912
• dbSNP Id: rs1553265808
• MyVariant Identifiers: chr1:g.161326589T>C (hg19) ; chr1:g.161356799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356799T>C , CM000663.2:g.161356799T>C	GRCh38
NC_000001.10:g.161326589T>C , CM000663.1:g.161326589T>C	GRCh37
NC_000001.9:g.159593213T>C	NCBI36
NG_012767.1:g.47424T>C , LRG_317:g.47424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*365T>C	ENSP00000482902.2:n.*365T>C
ENST00000367975.7:c.364T>C MANE Select	ENSP00000356953.3:p.Phe122Leu
ENST00000342751.8:c.242-5530T>C	ENSP00000356952.3:n.242-5530T>C
ENST00000367975.6:c.364T>C	ENSP00000356953.2:p.Phe122Leu
ENST00000392169.6:c.205T>C	ENSP00000376009.2:p.Phe69Leu
ENST00000432287.6:c.262T>C	ENSP00000390558.2:p.Phe88Leu
ENST00000470743.4:c.462T>C
ENST00000504963.5:c.*187T>C	ENSP00000423929.1:n.*187T>C
ENST00000513009.5:c.140-5530T>C	ENSP00000423260.1:n.140-5530T>C
NM_001035511.1:c.242-5530T>C	NP_001030588.1:n.242-5530T>C
NM_001035512.1:c.262T>C	NP_001030589.1:p.Phe88Leu
NM_001035513.1:c.205T>C	NP_001030590.1:p.Phe69Leu
NM_001278172.1:c.140-5530T>C	NP_001265101.1:n.140-5530T>C
NM_003001.3:c.364T>C , LRG_317t1:c.364T>C	NP_002992.1:p.Phe122Leu
NR_103459.1:n.421T>C
NM_001035511.2:c.242-5530T>C	NP_001030588.1:n.242-5530T>C
NM_001035512.2:c.262T>C	NP_001030589.1:p.Phe88Leu
NM_001035513.2:c.205T>C	NP_001030590.1:p.Phe69Leu
NM_001278172.2:c.140-5530T>C	NP_001265101.1:n.140-5530T>C
NM_003001.5:c.364T>C MANE Select	NP_002992.1:p.Phe122Leu
NR_103459.2:n.416T>C