Canonical Allele Identifier: CA2573131200

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1615408
• ClinVar RCV Id: RCV002081450
• dbSNP Id: rs2102308154
• gnomAD v4: 1-161328517-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328517C>A , CM000663.2:g.161328517C>A	GRCh38
NC_000001.10:g.161298307C>A , CM000663.1:g.161298307C>A	GRCh37
NC_000001.9:g.159564931C>A	NCBI36
NG_012767.1:g.19142C>A , LRG_317:g.19142C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*180+20C>A	ENSP00000482902.2:n.*180+20C>A
ENST00000367975.7:c.179+20C>A MANE Select	ENSP00000356953.3:n.179+20C>A
ENST00000342751.8:c.179+20C>A	ENSP00000356952.3:n.179+20C>A
ENST00000367975.6:c.179+20C>A	ENSP00000356953.2:n.179+20C>A
ENST00000392169.6:c.21-12077C>A	ENSP00000376009.2:n.21-12077C>A
ENST00000432287.6:c.77+4847C>A	ENSP00000390558.2:n.77+4847C>A
ENST00000470743.4:c.277+20C>A
ENST00000504963.5:c.179+20C>A	ENSP00000423929.1:n.179+20C>A
ENST00000513009.5:c.77+4847C>A	ENSP00000423260.1:n.77+4847C>A
NM_001035511.1:c.179+20C>A	NP_001030588.1:n.179+20C>A
NM_001035512.1:c.77+4847C>A	NP_001030589.1:n.77+4847C>A
NM_001035513.1:c.21-12077C>A	NP_001030590.1:n.21-12077C>A
NM_001278172.1:c.77+4847C>A	NP_001265101.1:n.77+4847C>A
NM_003001.3:c.179+20C>A , LRG_317t1:c.179+20C>A	NP_002992.1:n.179+20C>A
NR_103459.1:n.209+20C>A
NM_001035511.2:c.179+20C>A	NP_001030588.1:n.179+20C>A
NM_001035512.2:c.77+4847C>A	NP_001030589.1:n.77+4847C>A
NM_001035513.2:c.21-12077C>A	NP_001030590.1:n.21-12077C>A
NM_001278172.2:c.77+4847C>A	NP_001265101.1:n.77+4847C>A
NM_003001.5:c.179+20C>A MANE Select	NP_002992.1:n.179+20C>A
NR_103459.2:n.204+20C>A