Canonical Allele Identifier: CA526962060

Gene: SDHC

Linked Data

• dbSNP Id: rs1209590309
• gnomAD v2: 1-161326678-A-C
• gnomAD v4: 1-161356888-A-C
• MyVariant Identifiers: chr1:g.161326678A>C (hg19) ; chr1:g.161356888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356888A>C , CM000663.2:g.161356888A>C	GRCh38
NC_000001.10:g.161326678A>C , CM000663.1:g.161326678A>C	GRCh37
NC_000001.9:g.159593302A>C	NCBI36
NG_012767.1:g.47513A>C , LRG_317:g.47513A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*406+48A>C	ENSP00000482902.2:n.*406+48A>C
ENST00000367975.7:c.405+48A>C MANE Select	ENSP00000356953.3:n.405+48A>C
ENST00000342751.8:c.242-5441A>C	ENSP00000356952.3:n.242-5441A>C
ENST00000367975.6:c.405+48A>C	ENSP00000356953.2:n.405+48A>C
ENST00000392169.6:c.246+48A>C	ENSP00000376009.2:n.246+48A>C
ENST00000432287.6:c.303+48A>C	ENSP00000390558.2:n.303+48A>C
ENST00000470743.4:c.503+48A>C
ENST00000504963.5:c.*228+48A>C	ENSP00000423929.1:n.*228+48A>C
ENST00000513009.5:c.140-5441A>C	ENSP00000423260.1:n.140-5441A>C
NM_001035511.1:c.242-5441A>C	NP_001030588.1:n.242-5441A>C
NM_001035512.1:c.303+48A>C	NP_001030589.1:n.303+48A>C
NM_001035513.1:c.246+48A>C	NP_001030590.1:n.246+48A>C
NM_001278172.1:c.140-5441A>C	NP_001265101.1:n.140-5441A>C
NM_003001.3:c.405+48A>C , LRG_317t1:c.405+48A>C	NP_002992.1:n.405+48A>C
NR_103459.1:n.462+48A>C
NM_001035511.2:c.242-5441A>C	NP_001030588.1:n.242-5441A>C
NM_001035512.2:c.303+48A>C	NP_001030589.1:n.303+48A>C
NM_001035513.2:c.246+48A>C	NP_001030590.1:n.246+48A>C
NM_001278172.2:c.140-5441A>C	NP_001265101.1:n.140-5441A>C
NM_003001.5:c.405+48A>C MANE Select	NP_002992.1:n.405+48A>C
NR_103459.2:n.457+48A>C