Canonical Allele Identifier: CA409508604

Gene: CDH4

Linked Data

• gnomAD v4: 20-61928205-G-T
• MyVariant Identifiers: chr20:g.60503263G>T (hg19) ; chr20:g.61928205G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1787G>T MANE Select	ENSP00000484928.1:p.Ser596Ile
ENST00000543233.2:c.1565G>T	ENSP00000443301.1:p.Ser522Ile
ENST00000611855.4:c.1505G>T	ENSP00000480844.1:p.Ser502Ile
ENST00000614565.4:c.1787G>T	ENSP00000484928.1:p.Ser596Ile
NM_001252338.2:c.1676G>T	NP_001239267.1:p.Ser559Ile
NM_001252339.2:c.1565G>T	NP_001239268.1:p.Ser522Ile
NM_001794.4:c.1787G>T	NP_001785.2:p.Ser596Ile
NM_001794.5:c.1787G>T MANE Select	NP_001785.2:p.Ser596Ile
NM_001252339.3:c.1565G>T	NP_001239268.1:p.Ser522Ile