Canonical Allele Identifier: CA10145241

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 1570727
• ClinVar RCV Id: RCV002215590
• dbSNP Id: rs745652443
• ExAC: 22:24108304 C / T
• gnomAD v2: 22-24108304-C-T
• gnomAD v3: 22-23766117-C-T
• gnomAD v4: 22-23766117-C-T
• MyVariant Identifiers: chr22:g.24108304C>T (hg19) ; chr22:g.23766117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766117C>T , CM000684.2:g.23766117C>T	GRCh38
NC_000022.10:g.24108304C>T , CM000684.1:g.24108304C>T	GRCh37
NC_000022.9:g.22438304C>T	NCBI36
NG_034223.1:g.6856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.409+11G>A MANE Select	ENSP00000418428.3:n.409+11G>A
ENST00000401675.7:c.430+11G>A	ENSP00000384973.3:n.430+11G>A
ENST00000484558.2:c.409+11G>A	ENSP00000418428.2:n.409+11G>A
ENST00000517886.1:c.*56+11G>A	ENSP00000429976.1:n.*56+11G>A
ENST00000520222.1:c.*21+11G>A	ENSP00000430042.1:n.*21+11G>A
ENST00000523865.1:n.337+11G>A
NM_001301339.1:c.430+11G>A	NP_001288268.1:n.430+11G>A
NM_213720.2:c.409+11G>A	NP_998885.1:n.409+11G>A
NR_125755.1:n.454+11G>A
NR_125756.1:n.287+11G>A
NM_001301339.2:c.430+11G>A	NP_001288268.1:n.430+11G>A
NM_213720.3:c.409+11G>A MANE Select	NP_998885.1:n.409+11G>A
NR_125755.2:n.454+11G>A
NR_125756.2:n.287+11G>A