Canonical Allele Identifier: CA4270496
Gene: CHCHD2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.56102878C>A
GRCh37 chr7:g.56170571C>A
Revel Score:
ENST00000395422 (MANE Select) 0.457
gnomAD v2:
7:56170571 C / A
gnomAD v3:
7:56102878 C / A
gnomAD v4:
chr7-56102878-C-A
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395422.4:c.434G>T MANE Select ENSP00000378812.3:p.Arg145Leu
ENST00000395422.3:c.434G>T ENSP00000378812.3:p.Arg145Leu
ENST00000473095.1:n.452G>T
NM_016139.2:c.434G>T NP_057223.1:p.Arg145Leu
NM_001320327.1:c.434G>T NP_001307256.1:p.Arg145Leu
NM_016139.3:c.434G>T NP_057223.1:p.Arg145Leu
NM_016139.4:c.434G>T MANE Select NP_057223.1:p.Arg145Leu
NM_001320327.2:c.434G>T NP_001307256.1:p.Arg145Leu
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