Canonical Allele Identifier: CA526856681

Gene: SDHC

Linked Data

• ClinVar Variation Id: 512130
• ClinVar RCV Id: RCV000608623 ; RCV002064062
• dbSNP Id: rs1403146281
• gnomAD v2: 1-161284227-G-GTA
• gnomAD v3: 1-161314437-G-GTA
• gnomAD v4: 1-161314437-G-GTA
• MyVariant Identifiers: chr1:g.161284227_161284228insTA (hg19) ; chr1:g.161314437_161314438insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161314437_161314438insTA , CM000663.2:g.161314437_161314438insTA	GRCh38
NC_000001.10:g.161284227_161284228insTA , CM000663.1:g.161284227_161284228insTA	GRCh37
NC_000001.9:g.159550851_159550852insTA	NCBI36
NG_008055.1:g.535_536insTA , LRG_256:g.535_536insTA
NG_012767.1:g.5062_5063insTA , LRG_317:g.5062_5063insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.20+12_20+13insTA	ENSP00000482902.2:n.20+12_20+13insTA
ENST00000367975.7:c.20+12_20+13insTA MANE Select	ENSP00000356953.3:n.20+12_20+13insTA
ENST00000342751.8:c.20+12_20+13insTA	ENSP00000356952.3:n.20+12_20+13insTA
ENST00000367975.6:c.20+12_20+13insTA	ENSP00000356953.2:n.20+12_20+13insTA
ENST00000392169.6:c.20+12_20+13insTA	ENSP00000376009.2:n.20+12_20+13insTA
ENST00000432287.6:c.20+12_20+13insTA	ENSP00000390558.2:n.20+12_20+13insTA
ENST00000504963.5:c.20+12_20+13insTA	ENSP00000423929.1:n.20+12_20+13insTA
ENST00000513009.5:c.20+12_20+13insTA	ENSP00000423260.1:n.20+12_20+13insTA
ENST00000515731.1:n.57_58insTA
NM_001035511.1:c.20+12_20+13insTA	NP_001030588.1:n.20+12_20+13insTA
NM_001035512.1:c.20+12_20+13insTA	NP_001030589.1:n.20+12_20+13insTA
NM_001035513.1:c.20+12_20+13insTA	NP_001030590.1:n.20+12_20+13insTA
NM_001278172.1:c.20+12_20+13insTA	NP_001265101.1:n.20+12_20+13insTA
NM_003001.3:c.20+12_20+13insTA , LRG_317t1:c.20+12_20+13insTA	NP_002992.1:n.20+12_20+13insTA
NR_103459.1:n.50+12_50+13insTA
NM_001035511.2:c.20+12_20+13insTA	NP_001030588.1:n.20+12_20+13insTA
NM_001035512.2:c.20+12_20+13insTA	NP_001030589.1:n.20+12_20+13insTA
NM_001035513.2:c.20+12_20+13insTA	NP_001030590.1:n.20+12_20+13insTA
NM_001278172.2:c.20+12_20+13insTA	NP_001265101.1:n.20+12_20+13insTA
NM_003001.5:c.20+12_20+13insTA MANE Select	NP_002992.1:n.20+12_20+13insTA
NR_103459.2:n.45+12_45+13insTA