Canonical Allele Identifier: CA16609544
Gene: CDH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 402151
ClinVar RCV Id: RCV000454293
dbSNP Id: rs765815715
gnomAD v4: 20-61928394-G-C
MyVariant Identifiers: chr20:g.60503452G>C (hg19) chr20:g.61928394G>C (hg38)
PubMed: PMID:26539891
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000614565.5:c.1976G>C MANE Select ENSP00000484928.1:p.Arg659Pro
ENST00000543233.2:c.1754G>C ENSP00000443301.1:p.Arg585Pro
ENST00000611855.4:c.1694G>C ENSP00000480844.1:p.Arg565Pro
ENST00000614565.4:c.1976G>C ENSP00000484928.1:p.Arg659Pro
NM_001252338.2:c.1865G>C NP_001239267.1:p.Arg622Pro
NM_001252339.2:c.1754G>C NP_001239268.1:p.Arg585Pro
NM_001794.4:c.1976G>C NP_001785.2:p.Arg659Pro
NM_001794.5:c.1976G>C MANE Select NP_001785.2:p.Arg659Pro
NM_001252339.3:c.1754G>C NP_001239268.1:p.Arg585Pro
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