Canonical Allele Identifier: CA10145271

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 540611
• ClinVar RCV Id: RCV000650707 ; RCV002440358
• dbSNP Id: rs374353973
• ExAC: 22:24108450 C / T
• gnomAD v2: 22-24108450-C-T
• gnomAD v3: 22-23766263-C-T
• gnomAD v4: 22-23766263-C-T
• MyVariant Identifiers: chr22:g.24108450C>T (hg19) ; chr22:g.23766263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766263C>T , CM000684.2:g.23766263C>T	GRCh38
NC_000022.10:g.24108450C>T , CM000684.1:g.24108450C>T	GRCh37
NC_000022.9:g.22438450C>T	NCBI36
NG_034223.1:g.6710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.274G>A MANE Select	ENSP00000418428.3:p.Ala92Thr
ENST00000401675.7:c.295G>A	ENSP00000384973.3:p.Ala99Thr
ENST00000484558.2:c.274G>A	ENSP00000418428.2:p.Ala92Thr
ENST00000517886.1:c.221G>A	ENSP00000429976.1:p.Arg74His
ENST00000520222.1:c.54G>A	ENSP00000430042.1:p.Pro18=
ENST00000523865.1:n.202G>A
NM_001301339.1:c.295G>A	NP_001288268.1:p.Ala99Thr
NM_213720.2:c.274G>A	NP_998885.1:p.Ala92Thr
NR_125755.1:n.319G>A
NR_125756.1:n.152G>A
NM_001301339.2:c.295G>A	NP_001288268.1:p.Ala99Thr
NM_213720.3:c.274G>A MANE Select	NP_998885.1:p.Ala92Thr
NR_125755.2:n.319G>A
NR_125756.2:n.152G>A