Canonical Allele Identifier: CA343456775

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1737359
• ClinVar RCV Id: RCV002321278
• MyVariant Identifiers: chr1:g.161326629T>C (hg19) ; chr1:g.161356839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356839T>C , CM000663.2:g.161356839T>C	GRCh38
NC_000001.10:g.161326629T>C , CM000663.1:g.161326629T>C	GRCh37
NC_000001.9:g.159593253T>C	NCBI36
NG_012767.1:g.47464T>C , LRG_317:g.47464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*405T>C	ENSP00000482902.2:n.*405T>C
ENST00000367975.7:c.404T>C MANE Select	ENSP00000356953.3:p.Leu135Ser
ENST00000342751.8:c.242-5490T>C	ENSP00000356952.3:n.242-5490T>C
ENST00000367975.6:c.404T>C	ENSP00000356953.2:p.Leu135Ser
ENST00000392169.6:c.245T>C	ENSP00000376009.2:p.Leu82Ser
ENST00000432287.6:c.302T>C	ENSP00000390558.2:p.Leu101Ser
ENST00000470743.4:c.502T>C
ENST00000504963.5:c.*227T>C	ENSP00000423929.1:n.*227T>C
ENST00000513009.5:c.140-5490T>C	ENSP00000423260.1:n.140-5490T>C
NM_001035511.1:c.242-5490T>C	NP_001030588.1:n.242-5490T>C
NM_001035512.1:c.302T>C	NP_001030589.1:p.Leu101Ser
NM_001035513.1:c.245T>C	NP_001030590.1:p.Leu82Ser
NM_001278172.1:c.140-5490T>C	NP_001265101.1:n.140-5490T>C
NM_003001.3:c.404T>C , LRG_317t1:c.404T>C	NP_002992.1:p.Leu135Ser
NR_103459.1:n.461T>C
NM_001035511.2:c.242-5490T>C	NP_001030588.1:n.242-5490T>C
NM_001035512.2:c.302T>C	NP_001030589.1:p.Leu101Ser
NM_001035513.2:c.245T>C	NP_001030590.1:p.Leu82Ser
NM_001278172.2:c.140-5490T>C	NP_001265101.1:n.140-5490T>C
NM_003001.5:c.404T>C MANE Select	NP_002992.1:p.Leu135Ser
NR_103459.2:n.456T>C