Canonical Allele Identifier: CA9934930
Gene: CDH4 HGNC NCBI
COSMIC:
COSM222406
MyVariant.info:
GRCh38 chr20:g.61928394G>A
GRCh37 chr20:g.60503452G>A
Revel Score:
ENST00000360469 0.275
ENST00000536643 0.275
ENST00000543233 0.275
gnomAD v2:
20:60503452 G / A
gnomAD v3:
20:61928394 G / A
gnomAD v4:
chr20-61928394-G-A
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928394G>A , CM000682.2:g.61928394G>A GRCh38
NC_000020.10:g.60503452G>A , CM000682.1:g.60503452G>A GRCh37
NC_000020.9:g.59936847G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1976G>A MANE Select ENSP00000484928.1:p.Arg659Gln
ENST00000543233.2:c.1754G>A ENSP00000443301.1:p.Arg585Gln
ENST00000611855.4:c.1694G>A ENSP00000480844.1:p.Arg565Gln
ENST00000614565.4:c.1976G>A ENSP00000484928.1:p.Arg659Gln
NM_001252338.2:c.1865G>A NP_001239267.1:p.Arg622Gln
NM_001252339.2:c.1754G>A NP_001239268.1:p.Arg585Gln
NM_001794.4:c.1976G>A NP_001785.2:p.Arg659Gln
NM_001794.5:c.1976G>A MANE Select NP_001785.2:p.Arg659Gln
NM_001252339.3:c.1754G>A NP_001239268.1:p.Arg585Gln
Search 100 bp 5'
Search 100 bp 3'