Canonical Allele Identifier: CA049231

Gene: CHCHD10

Linked Data

• dbSNP Id: rs730880032
• gnomAD v4: 22-23767592-G-T
• MyVariant Identifiers: chr22:g.24109779G>T (hg19) ; chr22:g.23767592G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767592G>T , CM000684.2:g.23767592G>T	GRCh38
NC_000022.10:g.24109779G>T , CM000684.1:g.24109779G>T	GRCh37
NC_000022.9:g.22439779G>T	NCBI36
NG_034223.1:g.5381C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000484558.3:c.43C>A MANE Select	ENSP00000418428.3:p.Arg15Ser
ENST00000401675.7:c.43C>A	ENSP00000384973.3:p.Arg15Ser
ENST00000484558.2:c.43C>A	ENSP00000418428.2:p.Arg15Ser
ENST00000517886.1:c.42-52C>A	ENSP00000429976.1:n.42-52C>A
ENST00000520222.1:c.41+242C>A	ENSP00000430042.1:n.41+242C>A
NM_001301339.1:c.43C>A	NP_001288268.1:p.Arg15Ser
NM_213720.2:c.43C>A	NP_998885.1:p.Arg15Ser
NR_125755.1:n.140-52C>A
NR_125756.1:n.139+242C>A
NM_001301339.2:c.43C>A	NP_001288268.1:p.Arg15Ser
NM_213720.3:c.43C>A MANE Select	NP_998885.1:p.Arg15Ser
NR_125755.2:n.140-52C>A
NR_125756.2:n.139+242C>A