Canonical Allele Identifier: CA409508558
Gene: CDH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928192A>C , CM000682.2:g.61928192A>C GRCh38
NC_000020.10:g.60503250A>C , CM000682.1:g.60503250A>C GRCh37
NC_000020.9:g.59936645A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1774A>C MANE Select ENSP00000484928.1:p.Ile592Leu
ENST00000543233.2:c.1552A>C ENSP00000443301.1:p.Ile518Leu
ENST00000611855.4:c.1492A>C ENSP00000480844.1:p.Ile498Leu
ENST00000614565.4:c.1774A>C ENSP00000484928.1:p.Ile592Leu
NM_001252338.2:c.1663A>C NP_001239267.1:p.Ile555Leu
NM_001252339.2:c.1552A>C NP_001239268.1:p.Ile518Leu
NM_001794.4:c.1774A>C NP_001785.2:p.Ile592Leu
NM_001794.5:c.1774A>C MANE Select NP_001785.2:p.Ile592Leu
NM_001252339.3:c.1552A>C NP_001239268.1:p.Ile518Leu