Canonical Allele Identifier: CA409509004

Gene: CDH4

Linked Data

• dbSNP Id: rs1485834330
• gnomAD v2: 20-60503352-C-T
• gnomAD v4: 20-61928294-C-T
• COSMIC: COSM4473824
• MyVariant Identifiers: chr20:g.60503352C>T (hg19) ; chr20:g.61928294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928294C>T , CM000682.2:g.61928294C>T	GRCh38
NC_000020.10:g.60503352C>T , CM000682.1:g.60503352C>T	GRCh37
NC_000020.9:g.59936747C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1876C>T MANE Select	ENSP00000484928.1:p.Pro626Ser
ENST00000543233.2:c.1654C>T	ENSP00000443301.1:p.Pro552Ser
ENST00000611855.4:c.1594C>T	ENSP00000480844.1:p.Pro532Ser
ENST00000614565.4:c.1876C>T	ENSP00000484928.1:p.Pro626Ser
NM_001252338.2:c.1765C>T	NP_001239267.1:p.Pro589Ser
NM_001252339.2:c.1654C>T	NP_001239268.1:p.Pro552Ser
NM_001794.4:c.1876C>T	NP_001785.2:p.Pro626Ser
NM_001794.5:c.1876C>T MANE Select	NP_001785.2:p.Pro626Ser
NM_001252339.3:c.1654C>T	NP_001239268.1:p.Pro552Ser