Canonical Allele Identifier: CA011497

Gene: SDHC

Linked Data

• ClinVar Variation Id: 161387
• ClinVar RCV Id: RCV000148872 ; RCV000471140 ; RCV000563869 ; RCV002464125 ; RCV002465536 ; RCV003998177
• dbSNP Id: rs142139022
• ExAC: 1:161284203 C / T
• gnomAD v2: 1-161284203-C-T
• gnomAD v3: 1-161314413-C-T
• gnomAD v4: 1-161314413-C-T
• MyVariant Identifiers: chr1:g.161284203C>T (hg19) ; chr1:g.161314413C>T (hg38)
• PubMed: PMID:22517554 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161314413C>T , CM000663.2:g.161314413C>T	GRCh38
NC_000001.10:g.161284203C>T , CM000663.1:g.161284203C>T	GRCh37
NC_000001.9:g.159550827C>T	NCBI36
NG_008055.1:g.560G>A , LRG_256:g.560G>A
NG_012767.1:g.5038C>T , LRG_317:g.5038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.8C>T	ENSP00000482902.2:p.Ala3Val
ENST00000367975.7:c.8C>T MANE Select	ENSP00000356953.3:p.Ala3Val
ENST00000342751.8:c.8C>T	ENSP00000356952.3:p.Ala3Val
ENST00000367975.6:c.8C>T	ENSP00000356953.2:p.Ala3Val
ENST00000392169.6:c.8C>T	ENSP00000376009.2:p.Ala3Val
ENST00000432287.6:c.8C>T	ENSP00000390558.2:p.Ala3Val
ENST00000504963.5:c.8C>T	ENSP00000423929.1:p.Ala3Val
ENST00000513009.5:c.8C>T	ENSP00000423260.1:p.Ala3Val
ENST00000515731.1:n.33C>T
NM_001035511.1:c.8C>T	NP_001030588.1:p.Ala3Val
NM_001035512.1:c.8C>T	NP_001030589.1:p.Ala3Val
NM_001035513.1:c.8C>T	NP_001030590.1:p.Ala3Val
NM_001278172.1:c.8C>T	NP_001265101.1:p.Ala3Val
NM_003001.3:c.8C>T , LRG_317t1:c.8C>T	NP_002992.1:p.Ala3Val
NR_103459.1:n.38C>T
NM_001035511.2:c.8C>T	NP_001030588.1:p.Ala3Val
NM_001035512.2:c.8C>T	NP_001030589.1:p.Ala3Val
NM_001035513.2:c.8C>T	NP_001030590.1:p.Ala3Val
NM_001278172.2:c.8C>T	NP_001265101.1:p.Ala3Val
NM_003001.5:c.8C>T MANE Select	NP_002992.1:p.Ala3Val
NR_103459.2:n.33C>T