Canonical Allele Identifier: CA048587

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1697962
• ClinVar RCV Id: RCV002269246
• dbSNP Id: rs144938556
• ExAC: 1:161298163 C / G
• gnomAD v2: 1-161298163-C-G
• gnomAD v3: 1-161328373-C-G
• gnomAD v4: 1-161328373-C-G
• MyVariant Identifiers: chr1:g.161298163C>G (hg19) ; chr1:g.161328373C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328373C>G , CM000663.2:g.161328373C>G	GRCh38
NC_000001.10:g.161298163C>G , CM000663.1:g.161298163C>G	GRCh37
NC_000001.9:g.159564787C>G	NCBI36
NG_012767.1:g.18998C>G , LRG_317:g.18998C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*79-23C>G	ENSP00000482902.2:n.*79-23C>G
ENST00000367975.7:c.78-23C>G MANE Select	ENSP00000356953.3:n.78-23C>G
ENST00000342751.8:c.78-23C>G	ENSP00000356952.3:n.78-23C>G
ENST00000367975.6:c.78-23C>G	ENSP00000356953.2:n.78-23C>G
ENST00000392169.6:c.21-12221C>G	ENSP00000376009.2:n.21-12221C>G
ENST00000432287.6:c.77+4703C>G	ENSP00000390558.2:n.77+4703C>G
ENST00000470743.4:c.176-23C>G
ENST00000504963.5:c.78-23C>G	ENSP00000423929.1:n.78-23C>G
ENST00000513009.5:c.77+4703C>G	ENSP00000423260.1:n.77+4703C>G
ENST00000515731.1:n.552-23C>G
NM_001035511.1:c.78-23C>G	NP_001030588.1:n.78-23C>G
NM_001035512.1:c.77+4703C>G	NP_001030589.1:n.77+4703C>G
NM_001035513.1:c.21-12221C>G	NP_001030590.1:n.21-12221C>G
NM_001278172.1:c.77+4703C>G	NP_001265101.1:n.77+4703C>G
NM_003001.3:c.78-23C>G , LRG_317t1:c.78-23C>G	NP_002992.1:n.78-23C>G
NR_103459.1:n.108-23C>G
NM_001035511.2:c.78-23C>G	NP_001030588.1:n.78-23C>G
NM_001035512.2:c.77+4703C>G	NP_001030589.1:n.77+4703C>G
NM_001035513.2:c.21-12221C>G	NP_001030590.1:n.21-12221C>G
NM_001278172.2:c.77+4703C>G	NP_001265101.1:n.77+4703C>G
NM_003001.5:c.78-23C>G MANE Select	NP_002992.1:n.78-23C>G
NR_103459.2:n.103-23C>G