Canonical Allele Identifier: CA9934893
Gene: CDH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3060356
ClinVar RCV Id: RCV003977296
dbSNP Id: rs6142884
ExAC: 20:60503350 A / G
gnomAD v2: 20-60503350-A-G
gnomAD v3: 20-61928292-A-G
gnomAD v4: 20-61928292-A-G
MyVariant Identifiers: chr20:g.60503350A>G (hg19) chr20:g.61928292A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928292A>G , CM000682.2:g.61928292A>G GRCh38
NC_000020.10:g.60503350A>G , CM000682.1:g.60503350A>G GRCh37
NC_000020.9:g.59936745A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1874A>G MANE Select ENSP00000484928.1:p.Lys625Arg
ENST00000543233.2:c.1652A>G ENSP00000443301.1:p.Lys551Arg
ENST00000611855.4:c.1592A>G ENSP00000480844.1:p.Lys531Arg
ENST00000614565.4:c.1874A>G ENSP00000484928.1:p.Lys625Arg
NM_001252338.2:c.1763A>G NP_001239267.1:p.Lys588Arg
NM_001252339.2:c.1652A>G NP_001239268.1:p.Lys551Arg
NM_001794.4:c.1874A>G NP_001785.2:p.Lys625Arg
NM_001794.5:c.1874A>G MANE Select NP_001785.2:p.Lys625Arg
NM_001252339.3:c.1652A>G NP_001239268.1:p.Lys551Arg
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