Canonical Allele Identifier: CA409508677

Gene: CDH4

Linked Data

• dbSNP Id: rs1293611383
• gnomAD v2: 20-60503281-A-G
• gnomAD v3: 20-61928223-A-G
• gnomAD v4: 20-61928223-A-G
• MyVariant Identifiers: chr20:g.60503281A>G (hg19) ; chr20:g.61928223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928223A>G , CM000682.2:g.61928223A>G	GRCh38
NC_000020.10:g.60503281A>G , CM000682.1:g.60503281A>G	GRCh37
NC_000020.9:g.59936676A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1805A>G MANE Select	ENSP00000484928.1:p.Gln602Arg
ENST00000543233.2:c.1583A>G	ENSP00000443301.1:p.Gln528Arg
ENST00000611855.4:c.1523A>G	ENSP00000480844.1:p.Gln508Arg
ENST00000614565.4:c.1805A>G	ENSP00000484928.1:p.Gln602Arg
NM_001252338.2:c.1694A>G	NP_001239267.1:p.Gln565Arg
NM_001252339.2:c.1583A>G	NP_001239268.1:p.Gln528Arg
NM_001794.4:c.1805A>G	NP_001785.2:p.Gln602Arg
NM_001794.5:c.1805A>G MANE Select	NP_001785.2:p.Gln602Arg
NM_001252339.3:c.1583A>G	NP_001239268.1:p.Gln528Arg