Canonical Allele Identifier: CA16609919
Gene: SDHC HGNC NCBI

Linked Data

ClinVar Variation Id: 407048
ClinVar RCV Id: RCV000471316
dbSNP Id: rs1060501387

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161356809T>C , CM000663.2:g.161356809T>C GRCh38
NC_000001.10:g.161326599T>C , CM000663.1:g.161326599T>C GRCh37
NC_000001.9:g.159593223T>C NCBI36
NG_012767.1:g.47434T>C , LRG_317:g.47434T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470743.5:c.*375T>C ENSP00000482902.2:n.*375T>C
ENST00000367975.7:c.374T>C MANE Select ENSP00000356953.3:p.Met125Thr
ENST00000342751.8:c.242-5520T>C ENSP00000356952.3:n.242-5520T>C
ENST00000367975.6:c.374T>C ENSP00000356953.2:p.Met125Thr
ENST00000392169.6:c.215T>C ENSP00000376009.2:p.Met72Thr
ENST00000432287.6:c.272T>C ENSP00000390558.2:p.Met91Thr
ENST00000470743.4:c.472T>C
ENST00000504963.5:c.*197T>C ENSP00000423929.1:n.*197T>C
ENST00000513009.5:c.140-5520T>C ENSP00000423260.1:n.140-5520T>C
NM_001035511.1:c.242-5520T>C NP_001030588.1:n.242-5520T>C
NM_001035512.1:c.272T>C NP_001030589.1:p.Met91Thr
NM_001035513.1:c.215T>C NP_001030590.1:p.Met72Thr
NM_001278172.1:c.140-5520T>C NP_001265101.1:n.140-5520T>C
NM_003001.3:c.374T>C , LRG_317t1:c.374T>C NP_002992.1:p.Met125Thr
NR_103459.1:n.431T>C
NM_001035511.2:c.242-5520T>C NP_001030588.1:n.242-5520T>C
NM_001035512.2:c.272T>C NP_001030589.1:p.Met91Thr
NM_001035513.2:c.215T>C NP_001030590.1:p.Met72Thr
NM_001278172.2:c.140-5520T>C NP_001265101.1:n.140-5520T>C
NM_003001.5:c.374T>C MANE Select NP_002992.1:p.Met125Thr
NR_103459.2:n.426T>C