Canonical Allele Identifier: CA163486

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 140745
• ClinVar RCV Id: RCV000128857 ; RCV000192232 ; RCV001268565
• dbSNP Id: rs587777574
• gnomAD v4: 22-23767459-G-A
• MyVariant Identifiers: chr22:g.24109646G>A (hg19) ; chr22:g.23767459G>A (hg38)
• PubMed: PMID:24934289 ; PMID:26131548

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767459G>A , CM000684.2:g.23767459G>A	GRCh38
NC_000022.10:g.24109646G>A , CM000684.1:g.24109646G>A	GRCh37
NC_000022.9:g.22439646G>A	NCBI36
NG_034223.1:g.5514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.176C>T MANE Select	ENSP00000418428.3:p.Ser59Leu
ENST00000401675.7:c.176C>T	ENSP00000384973.3:p.Ser59Leu
ENST00000484558.2:c.176C>T	ENSP00000418428.2:p.Ser59Leu
ENST00000517886.1:c.123C>T	ENSP00000429976.1:p.Leu41=
ENST00000520222.1:c.41+375C>T	ENSP00000430042.1:n.41+375C>T
NM_001301339.1:c.176C>T	NP_001288268.1:p.Ser59Leu
NM_213720.2:c.176C>T	NP_998885.1:p.Ser59Leu
NR_125755.1:n.221C>T
NR_125756.1:n.139+375C>T
NM_001301339.2:c.176C>T	NP_001288268.1:p.Ser59Leu
NM_213720.3:c.176C>T MANE Select	NP_998885.1:p.Ser59Leu
NR_125755.2:n.221C>T
NR_125756.2:n.139+375C>T