Canonical Allele Identifier: CA409508824

Gene: CDH4

Linked Data

• ClinVar Variation Id: 1341780
• ClinVar RCV Id: RCV001837260
• dbSNP Id: rs951281332
• gnomAD v4: 20-61928253-C-T
• MyVariant Identifiers: chr20:g.60503311C>T (hg19) ; chr20:g.61928253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928253C>T , CM000682.2:g.61928253C>T	GRCh38
NC_000020.10:g.60503311C>T , CM000682.1:g.60503311C>T	GRCh37
NC_000020.9:g.59936706C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1835C>T MANE Select	ENSP00000484928.1:p.Ala612Val
ENST00000543233.2:c.1613C>T	ENSP00000443301.1:p.Ala538Val
ENST00000611855.4:c.1553C>T	ENSP00000480844.1:p.Ala518Val
ENST00000614565.4:c.1835C>T	ENSP00000484928.1:p.Ala612Val
NM_001252338.2:c.1724C>T	NP_001239267.1:p.Ala575Val
NM_001252339.2:c.1613C>T	NP_001239268.1:p.Ala538Val
NM_001794.4:c.1835C>T	NP_001785.2:p.Ala612Val
NM_001794.5:c.1835C>T MANE Select	NP_001785.2:p.Ala612Val
NM_001252339.3:c.1613C>T	NP_001239268.1:p.Ala538Val