Canonical Allele Identifier: CA421501109

Gene: SDHC

Linked Data

• ClinVar Variation Id: 2952842
• ClinVar RCV Id: RCV003817976
• MyVariant Identifiers: chr1:g.161326621C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356831C>A , CM000663.2:g.161356831C>A	GRCh38
NC_000001.10:g.161326621C>A , CM000663.1:g.161326621C>A	GRCh37
NC_000001.9:g.159593245C>A	NCBI36
NG_012767.1:g.47456C>A , LRG_317:g.47456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*397C>A	ENSP00000482902.2:n.*397C>A
ENST00000367975.7:c.396C>A MANE Select	ENSP00000356953.3:p.Ile132=
ENST00000342751.8:c.242-5498C>A	ENSP00000356952.3:n.242-5498C>A
ENST00000367975.6:c.396C>A	ENSP00000356953.2:p.Ile132=
ENST00000392169.6:c.237C>A	ENSP00000376009.2:p.Ile79=
ENST00000432287.6:c.294C>A	ENSP00000390558.2:p.Ile98=
ENST00000470743.4:c.494C>A
ENST00000504963.5:c.*219C>A	ENSP00000423929.1:n.*219C>A
ENST00000513009.5:c.140-5498C>A	ENSP00000423260.1:n.140-5498C>A
NM_001035511.1:c.242-5498C>A	NP_001030588.1:n.242-5498C>A
NM_001035512.1:c.294C>A	NP_001030589.1:p.Ile98=
NM_001035513.1:c.237C>A	NP_001030590.1:p.Ile79=
NM_001278172.1:c.140-5498C>A	NP_001265101.1:n.140-5498C>A
NM_003001.3:c.396C>A , LRG_317t1:c.396C>A	NP_002992.1:p.Ile132=
NR_103459.1:n.453C>A
NM_001035511.2:c.242-5498C>A	NP_001030588.1:n.242-5498C>A
NM_001035512.2:c.294C>A	NP_001030589.1:p.Ile98=
NM_001035513.2:c.237C>A	NP_001030590.1:p.Ile79=
NM_001278172.2:c.140-5498C>A	NP_001265101.1:n.140-5498C>A
NM_003001.5:c.396C>A MANE Select	NP_002992.1:p.Ile132=
NR_103459.2:n.448C>A