Canonical Allele Identifier: CA235291

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 180220
• ClinVar RCV Id: RCV000157069 ; RCV000804540 ; RCV001731147 ; RCV002463652
• dbSNP Id: rs730880030
• gnomAD v4: 22-23767591-C-A
• MyVariant Identifiers: chr22:g.24109778C>A (hg19) ; chr22:g.23767591C>A (hg38)
• PubMed: PMID:25113787 ; PMID:25193783 ; PMID:25261972 ; PMID:25348631 ; PMID:25576308 ; PMID:26131548

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767591C>A , CM000684.2:g.23767591C>A	GRCh38
NC_000022.10:g.24109778C>A , CM000684.1:g.24109778C>A	GRCh37
NC_000022.9:g.22439778C>A	NCBI36
NG_034223.1:g.5382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.44G>T MANE Select	ENSP00000418428.3:p.Arg15Leu
ENST00000401675.7:c.44G>T	ENSP00000384973.3:p.Arg15Leu
ENST00000484558.2:c.44G>T	ENSP00000418428.2:p.Arg15Leu
ENST00000517886.1:c.42-51G>T	ENSP00000429976.1:n.42-51G>T
ENST00000520222.1:c.41+243G>T	ENSP00000430042.1:n.41+243G>T
NM_001301339.1:c.44G>T	NP_001288268.1:p.Arg15Leu
NM_213720.2:c.44G>T	NP_998885.1:p.Arg15Leu
NR_125755.1:n.140-51G>T
NR_125756.1:n.139+243G>T
NM_001301339.2:c.44G>T	NP_001288268.1:p.Arg15Leu
NM_213720.3:c.44G>T MANE Select	NP_998885.1:p.Arg15Leu
NR_125755.2:n.140-51G>T
NR_125756.2:n.139+243G>T