Canonical Allele Identifier: CA214827
Gene: CHCHD2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.56102878C>T
GRCh37 chr7:g.56170571C>T
Revel Score:
ENST00000395422 (MANE Select) 0.298
gnomAD v2:
7:56170571 C / T
gnomAD v4:
chr7-56102878-C-T
Joint Max Group AF 0.00010971 (SAS)
Exomes Max Group AF 0.0001155 (SAS)
ClinVar RCV:
RCV000203222
RCV003556255
ClinVar Variation:
218883
dbSNP:
752169833
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.56102878C>T , CM000669.2:g.56102878C>T GRCh38
NC_000007.13:g.56170571C>T , CM000669.1:g.56170571C>T GRCh37
NC_000007.12:g.56138065C>T NCBI36
NG_046734.1:g.8753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395422.4:c.434G>A MANE Select ENSP00000378812.3:p.Arg145Gln
ENST00000395422.3:c.434G>A ENSP00000378812.3:p.Arg145Gln
ENST00000473095.1:n.452G>A
NM_016139.2:c.434G>A NP_057223.1:p.Arg145Gln
NM_001320327.1:c.434G>A NP_001307256.1:p.Arg145Gln
NM_016139.3:c.434G>A NP_057223.1:p.Arg145Gln
NM_016139.4:c.434G>A MANE Select NP_057223.1:p.Arg145Gln
NM_001320327.2:c.434G>A NP_001307256.1:p.Arg145Gln
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