Canonical Allele Identifier: CA317137439

Gene: CDH4

Linked Data

• dbSNP Id: rs544179191
• gnomAD v2: 20-60503275-C-T
• gnomAD v4: 20-61928217-C-T
• MyVariant Identifiers: chr20:g.60503275C>T (hg19) ; chr20:g.61928217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928217C>T , CM000682.2:g.61928217C>T	GRCh38
NC_000020.10:g.60503275C>T , CM000682.1:g.60503275C>T	GRCh37
NC_000020.9:g.59936670C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1799C>T MANE Select	ENSP00000484928.1:p.Thr600Ile
ENST00000543233.2:c.1577C>T	ENSP00000443301.1:p.Thr526Ile
ENST00000611855.4:c.1517C>T	ENSP00000480844.1:p.Thr506Ile
ENST00000614565.4:c.1799C>T	ENSP00000484928.1:p.Thr600Ile
NM_001252338.2:c.1688C>T	NP_001239267.1:p.Thr563Ile
NM_001252339.2:c.1577C>T	NP_001239268.1:p.Thr526Ile
NM_001794.4:c.1799C>T	NP_001785.2:p.Thr600Ile
NM_001794.5:c.1799C>T MANE Select	NP_001785.2:p.Thr600Ile
NM_001252339.3:c.1577C>T	NP_001239268.1:p.Thr526Ile