Canonical Allele Identifier: CA10608581

Gene: SDHC

Linked Data

• ClinVar Variation Id: 293326
• ClinVar RCV Id: RCV000292734
• dbSNP Id: rs74124906
• gnomAD v2: 1-161332620-G-A
• gnomAD v3: 1-161362830-G-A
• gnomAD v4: 1-161362830-G-A
• MyVariant Identifiers: chr1:g.161332620G>A (hg19) ; chr1:g.161362830G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161362830G>A , CM000663.2:g.161362830G>A	GRCh38
NC_000001.10:g.161332620G>A , CM000663.1:g.161332620G>A	GRCh37
NC_000001.9:g.159599244G>A	NCBI36
NG_012767.1:g.53455G>A , LRG_317:g.53455G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*908G>A	ENSP00000482902.2:n.*908G>A
ENST00000367975.7:c.*397G>A MANE Select	ENSP00000356953.3:n.*397G>A
ENST00000342751.8:c.*290G>A	ENSP00000356952.3:n.*290G>A
ENST00000367975.6:c.*397G>A	ENSP00000356953.2:n.*397G>A
NM_001035511.1:c.*290G>A	NP_001030588.1:n.*290G>A
NM_001035512.1:c.*397G>A	NP_001030589.1:n.*397G>A
NM_001035513.1:c.*397G>A	NP_001030590.1:n.*397G>A
NM_001278172.1:c.*290G>A	NP_001265101.1:n.*290G>A
NM_003001.3:c.*397G>A , LRG_317t1:c.*397G>A	NP_002992.1:n.*397G>A
NR_103459.1:n.964G>A
NM_001035511.2:c.*290G>A	NP_001030588.1:n.*290G>A
NM_001035512.2:c.*397G>A	NP_001030589.1:n.*397G>A
NM_001035513.2:c.*397G>A	NP_001030590.1:n.*397G>A
NM_001278172.2:c.*290G>A	NP_001265101.1:n.*290G>A
NM_003001.5:c.*397G>A MANE Select	NP_002992.1:n.*397G>A
NR_103459.2:n.959G>A