Canonical Allele Identifier: CA049364
Gene: CHCHD10 HGNC NCBI

Linked Data

ClinVar Variation Id: 242618
ClinVar RCV Id: RCV002285151
dbSNP Id: rs730880033
MyVariant Identifiers: chr22:g.24109650C>G (hg19) chr22:g.23767463C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23767463C>G , CM000684.2:g.23767463C>G GRCh38
NC_000022.10:g.24109650C>G , CM000684.1:g.24109650C>G GRCh37
NC_000022.9:g.22439650C>G NCBI36
NG_034223.1:g.5510G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000484558.3:c.172G>C MANE Select ENSP00000418428.3:p.Gly58Arg
ENST00000401675.7:c.172G>C ENSP00000384973.3:p.Gly58Arg
ENST00000484558.2:c.172G>C ENSP00000418428.2:p.Gly58Arg
ENST00000517886.1:c.119G>C ENSP00000429976.1:p.Gly40Ala
ENST00000520222.1:c.41+371G>C ENSP00000430042.1:n.41+371G>C
NM_001301339.1:c.172G>C NP_001288268.1:p.Gly58Arg
NM_213720.2:c.172G>C NP_998885.1:p.Gly58Arg
NR_125755.1:n.217G>C
NR_125756.1:n.139+371G>C
NM_001301339.2:c.172G>C NP_001288268.1:p.Gly58Arg
NM_213720.3:c.172G>C MANE Select NP_998885.1:p.Gly58Arg
NR_125755.2:n.217G>C
NR_125756.2:n.139+371G>C
Search 100 bp 5'
Search 100 bp 3'