Canonical Allele Identifier: CA526862026

Gene: SDHC

Linked Data

• ClinVar Variation Id: 465966
• ClinVar RCV Id: RCV000533604 ; RCV002448700
• dbSNP Id: rs1413662099
• gnomAD v2: 1-161310448-A-G
• gnomAD v4: 1-161340658-A-G
• MyVariant Identifiers: chr1:g.161310448A>G (hg19) ; chr1:g.161340658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340658A>G , CM000663.2:g.161340658A>G	GRCh38
NC_000001.10:g.161310448A>G , CM000663.1:g.161310448A>G	GRCh37
NC_000001.9:g.159577072A>G	NCBI36
NG_012767.1:g.31283A>G , LRG_317:g.31283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*242+3A>G	ENSP00000482902.2:n.*242+3A>G
ENST00000367975.7:c.241+3A>G MANE Select	ENSP00000356953.3:n.241+3A>G
ENST00000342751.8:c.241+3A>G	ENSP00000356952.3:n.241+3A>G
ENST00000367975.6:c.241+3A>G	ENSP00000356953.2:n.241+3A>G
ENST00000392169.6:c.82+3A>G	ENSP00000376009.2:n.82+3A>G
ENST00000432287.6:c.139+3A>G	ENSP00000390558.2:n.139+3A>G
ENST00000470743.4:c.339+3A>G
ENST00000504963.5:c.*64+3A>G	ENSP00000423929.1:n.*64+3A>G
ENST00000513009.5:c.139+3A>G	ENSP00000423260.1:n.139+3A>G
NM_001035511.1:c.241+3A>G	NP_001030588.1:n.241+3A>G
NM_001035512.1:c.139+3A>G	NP_001030589.1:n.139+3A>G
NM_001035513.1:c.82+3A>G	NP_001030590.1:n.82+3A>G
NM_001278172.1:c.139+3A>G	NP_001265101.1:n.139+3A>G
NM_003001.3:c.241+3A>G , LRG_317t1:c.241+3A>G	NP_002992.1:n.241+3A>G
NR_103459.1:n.298+3A>G
NM_001035511.2:c.241+3A>G	NP_001030588.1:n.241+3A>G
NM_001035512.2:c.139+3A>G	NP_001030589.1:n.139+3A>G
NM_001035513.2:c.82+3A>G	NP_001030590.1:n.82+3A>G
NM_001278172.2:c.139+3A>G	NP_001265101.1:n.139+3A>G
NM_003001.5:c.241+3A>G MANE Select	NP_002992.1:n.241+3A>G
NR_103459.2:n.293+3A>G