Canonical Allele Identifier: CA1835592
Gene: CHCHD5 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.112586316T>G
GRCh37 chr2:g.113343893T>G
Revel Score:
ENST00000324913 (MANE Select) 0.341
ENST00000409719 0.341
gnomAD v2:
2:113343893 T / G
gnomAD v4:
chr2-112586316-T-G
Joint Max Group AF 0.00004345 (EAS)
Exomes Max Group AF 0.00004907 (EAS)
ClinVar Allele:
2770800
ClinVar RCV:
RCV004349835
ClinVar Variation:
2600916
dbSNP:
753637909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112586316T>G , CM000664.2:g.112586316T>G GRCh38
NC_000002.11:g.113343893T>G , CM000664.1:g.113343893T>G GRCh37
NC_000002.10:g.113060364T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324913.10:c.260T>G MANE Select ENSP00000325655.5:p.Leu87Arg
ENST00000324913.9:c.260T>G ENSP00000325655.5:p.Leu87Arg
ENST00000409719.1:c.260T>G ENSP00000386994.1:p.Leu87Arg
ENST00000454841.5:c.*198T>G ENSP00000412731.1:n.*198T>G
ENST00000469030.1:n.305T>G
ENST00000489052.5:n.505T>G
NM_001304353.1:c.146T>G NP_001291282.1:p.Leu49Arg
NM_001304354.1:c.146T>G NP_001291283.1:p.Leu49Arg
NM_032309.3:c.260T>G NP_115685.1:p.Leu87Arg
XM_005263824.2:c.260T>G XP_005263881.1:p.Leu87Arg
XM_005263824.4:c.260T>G XP_005263881.1:p.Leu87Arg
NM_001304353.2:c.146T>G NP_001291282.1:p.Leu49Arg
NM_001304354.2:c.146T>G NP_001291283.1:p.Leu49Arg
NM_001371322.1:c.146T>G NP_001358251.1:p.Leu49Arg
NM_001371323.1:c.146T>G NP_001358252.1:p.Leu49Arg
NM_032309.4:c.260T>G MANE Select NP_115685.1:p.Leu87Arg
NR_163920.1:n.308T>G
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