Canonical Allele Identifier: CA410916186

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 572533
• ClinVar RCV Id: RCV000693937
• dbSNP Id: rs730880031
• gnomAD v2: 22-24109625-C-T
• gnomAD v4: 22-23767438-C-T
• MyVariant Identifiers: chr22:g.24109625C>T (hg19) ; chr22:g.23767438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767438C>T , CM000684.2:g.23767438C>T	GRCh38
NC_000022.10:g.24109625C>T , CM000684.1:g.24109625C>T	GRCh37
NC_000022.9:g.22439625C>T	NCBI36
NG_034223.1:g.5535G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000484558.3:c.197G>A MANE Select	ENSP00000418428.3:p.Gly66Asp
ENST00000401675.7:c.197G>A	ENSP00000384973.3:p.Gly66Asp
ENST00000484558.2:c.197G>A	ENSP00000418428.2:p.Gly66Asp
ENST00000517886.1:c.144G>A	ENSP00000429976.1:p.Gly48=
ENST00000520222.1:c.41+396G>A	ENSP00000430042.1:n.41+396G>A
NM_001301339.1:c.197G>A	NP_001288268.1:p.Gly66Asp
NM_213720.2:c.197G>A	NP_998885.1:p.Gly66Asp
NR_125755.1:n.242G>A
NR_125756.1:n.139+396G>A
NM_001301339.2:c.197G>A	NP_001288268.1:p.Gly66Asp
NM_213720.3:c.197G>A MANE Select	NP_998885.1:p.Gly66Asp
NR_125755.2:n.242G>A
NR_125756.2:n.139+396G>A