Canonical Allele Identifier: CA409508943

Gene: CDH4

Linked Data

• dbSNP Id: rs374049051
• gnomAD v2: 20-60503340-A-G
• gnomAD v4: 20-61928282-A-G
• MyVariant Identifiers: chr20:g.60503340A>G (hg19) ; chr20:g.61928282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928282A>G , CM000682.2:g.61928282A>G	GRCh38
NC_000020.10:g.60503340A>G , CM000682.1:g.60503340A>G	GRCh37
NC_000020.9:g.59936735A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1864A>G MANE Select	ENSP00000484928.1:p.Ile622Val
ENST00000543233.2:c.1642A>G	ENSP00000443301.1:p.Ile548Val
ENST00000611855.4:c.1582A>G	ENSP00000480844.1:p.Ile528Val
ENST00000614565.4:c.1864A>G	ENSP00000484928.1:p.Ile622Val
NM_001252338.2:c.1753A>G	NP_001239267.1:p.Ile585Val
NM_001252339.2:c.1642A>G	NP_001239268.1:p.Ile548Val
NM_001794.4:c.1864A>G	NP_001785.2:p.Ile622Val
NM_001794.5:c.1864A>G MANE Select	NP_001785.2:p.Ile622Val
NM_001252339.3:c.1642A>G	NP_001239268.1:p.Ile548Val