Canonical Allele Identifier: CA409508893
Gene: CDH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2477751
ClinVar RCV Id: RCV004271448
dbSNP Id: rs1302417277
gnomAD v3: 20-61928272-G-C
gnomAD v4: 20-61928272-G-C
MyVariant Identifiers: chr20:g.60503330G>C (hg19) chr20:g.61928272G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928272G>C , CM000682.2:g.61928272G>C GRCh38
NC_000020.10:g.60503330G>C , CM000682.1:g.60503330G>C GRCh37
NC_000020.9:g.59936725G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1854G>C MANE Select ENSP00000484928.1:p.Lys618Asn
ENST00000543233.2:c.1632G>C ENSP00000443301.1:p.Lys544Asn
ENST00000611855.4:c.1572G>C ENSP00000480844.1:p.Lys524Asn
ENST00000614565.4:c.1854G>C ENSP00000484928.1:p.Lys618Asn
NM_001252338.2:c.1743G>C NP_001239267.1:p.Lys581Asn
NM_001252339.2:c.1632G>C NP_001239268.1:p.Lys544Asn
NM_001794.4:c.1854G>C NP_001785.2:p.Lys618Asn
NM_001794.5:c.1854G>C MANE Select NP_001785.2:p.Lys618Asn
NM_001252339.3:c.1632G>C NP_001239268.1:p.Lys544Asn
Search 100 bp 5'
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