Canonical Allele Identifier: CA409508600

Gene: CDH4

Linked Data

• dbSNP Id: rs1468863780
• gnomAD v3: 20-61928205-G-A
• gnomAD v4: 20-61928205-G-A
• MyVariant Identifiers: chr20:g.60503263G>A (hg19) ; chr20:g.61928205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928205G>A , CM000682.2:g.61928205G>A	GRCh38
NC_000020.10:g.60503263G>A , CM000682.1:g.60503263G>A	GRCh37
NC_000020.9:g.59936658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1787G>A MANE Select	ENSP00000484928.1:p.Ser596Asn
ENST00000543233.2:c.1565G>A	ENSP00000443301.1:p.Ser522Asn
ENST00000611855.4:c.1505G>A	ENSP00000480844.1:p.Ser502Asn
ENST00000614565.4:c.1787G>A	ENSP00000484928.1:p.Ser596Asn
NM_001252338.2:c.1676G>A	NP_001239267.1:p.Ser559Asn
NM_001252339.2:c.1565G>A	NP_001239268.1:p.Ser522Asn
NM_001794.4:c.1787G>A	NP_001785.2:p.Ser596Asn
NM_001794.5:c.1787G>A MANE Select	NP_001785.2:p.Ser596Asn
NM_001252339.3:c.1565G>A	NP_001239268.1:p.Ser522Asn