Canonical Allele Identifier: CA9934699

Gene: CDH4

Linked Data

• ClinVar Variation Id: 438596
• ClinVar RCV Id: RCV000656098
• dbSNP Id: rs139577432
• ExAC: 20:60485640 G / A
• gnomAD v2: 20-60485640-G-A
• gnomAD v3: 20-61910584-G-A
• gnomAD v4: 20-61910584-G-A
• MyVariant Identifiers: chr20:g.60485640G>A (hg19) ; chr20:g.61910584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61910584G>A , CM000682.2:g.61910584G>A	GRCh38
NC_000020.10:g.60485640G>A , CM000682.1:g.60485640G>A	GRCh37
NC_000020.9:g.59919035G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1351G>A MANE Select	ENSP00000484928.1:p.Glu451Lys
ENST00000543233.2:c.1129G>A	ENSP00000443301.1:p.Glu377Lys
ENST00000611855.4:c.1069G>A	ENSP00000480844.1:p.Glu357Lys
ENST00000614565.4:c.1351G>A	ENSP00000484928.1:p.Glu451Lys
NM_001252338.2:c.1240G>A	NP_001239267.1:p.Glu414Lys
NM_001252339.2:c.1129G>A	NP_001239268.1:p.Glu377Lys
NM_001794.4:c.1351G>A	NP_001785.2:p.Glu451Lys
NM_001794.5:c.1351G>A MANE Select	NP_001785.2:p.Glu451Lys
NM_001252339.3:c.1129G>A	NP_001239268.1:p.Glu377Lys