Allele Registry

Canonical Allele Identifier: CA048025

Gene: SDHC HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.161323640del

GRCh37 chr1:g.161293430del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV003149096

ClinVar Variation:

2442323

dbSNP:

758528026

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161323642del , CM000663.2:g.161323642del	GRCh38
NC_000001.10:g.161293432del , CM000663.1:g.161293432del	GRCh37
NC_000001.9:g.159560056del	NCBI36
NG_012767.1:g.14267del , LRG_317:g.14267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.49del	ENSP00000482902.2:p.His17ThrfsTer20
ENST00000367975.7:c.49del MANE Select	ENSP00000356953.3:p.His17ThrfsTer30
ENST00000342751.8:c.49del	ENSP00000356952.3:p.His17ThrfsTer30
ENST00000367975.6:c.49del	ENSP00000356953.2:p.His17ThrfsTer30
ENST00000392169.6:c.20+9217del	ENSP00000376009.2:n.20+9217del
ENST00000432287.6:c.49del	ENSP00000390558.2:p.His17ThrfsTer28
ENST00000470743.4:c.29del
ENST00000504963.5:c.49del	ENSP00000423929.1:p.His17ThrfsTer30
ENST00000513009.5:c.49del	ENSP00000423260.1:p.His17ThrfsTer28
ENST00000515731.1:n.523del
NM_001035511.1:c.49del	NP_001030588.1:p.His17ThrfsTer30
NM_001035512.1:c.49del	NP_001030589.1:p.His17ThrfsTer28
NM_001035513.1:c.20+9217del	NP_001030590.1:n.20+9217del
NM_001278172.1:c.49del	NP_001265101.1:p.His17ThrfsTer28
NM_003001.3:c.49del , LRG_317t1:c.49del	NP_002992.1:p.His17ThrfsTer30
NR_103459.1:n.79del
NM_001035511.2:c.49del	NP_001030588.1:p.His17ThrfsTer30
NM_001035512.2:c.49del	NP_001030589.1:p.His17ThrfsTer28
NM_001035513.2:c.20+9217del	NP_001030590.1:n.20+9217del
NM_001278172.2:c.49del	NP_001265101.1:p.His17ThrfsTer28
NM_003001.5:c.49del MANE Select	NP_002992.1:p.His17ThrfsTer30
NR_103459.2:n.74del

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