Canonical Allele Identifier: CA410914091

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 1980844
• ClinVar RCV Id: RCV002780349
• gnomAD v4: 22-23766142-C-T
• MyVariant Identifiers: chr22:g.24108329C>T (hg19) ; chr22:g.23766142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766142C>T , CM000684.2:g.23766142C>T	GRCh38
NC_000022.10:g.24108329C>T , CM000684.1:g.24108329C>T	GRCh37
NC_000022.9:g.22438329C>T	NCBI36
NG_034223.1:g.6831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.395G>A MANE Select	ENSP00000418428.3:p.Cys132Tyr
ENST00000401675.7:c.416G>A	ENSP00000384973.3:p.Cys139Tyr
ENST00000484558.2:c.395G>A	ENSP00000418428.2:p.Cys132Tyr
ENST00000517886.1:c.*42G>A	ENSP00000429976.1:n.*42G>A
ENST00000520222.1:c.*7G>A	ENSP00000430042.1:n.*7G>A
ENST00000523865.1:n.323G>A
NM_001301339.1:c.416G>A	NP_001288268.1:p.Cys139Tyr
NM_213720.2:c.395G>A	NP_998885.1:p.Cys132Tyr
NR_125755.1:n.440G>A
NR_125756.1:n.273G>A
NM_001301339.2:c.416G>A	NP_001288268.1:p.Cys139Tyr
NM_213720.3:c.395G>A MANE Select	NP_998885.1:p.Cys132Tyr
NR_125755.2:n.440G>A
NR_125756.2:n.273G>A