Canonical Allele Identifier: CA9934879

Gene: CDH4

Linked Data

• dbSNP Id: rs375144188
• ExAC: 20:60503274 A / G
• gnomAD v2: 20-60503274-A-G
• MyVariant Identifiers: chr20:g.60503274A>G (hg19) ; chr20:g.61928216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928216A>G , CM000682.2:g.61928216A>G	GRCh38
NC_000020.10:g.60503274A>G , CM000682.1:g.60503274A>G	GRCh37
NC_000020.9:g.59936669A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1798A>G MANE Select	ENSP00000484928.1:p.Thr600Ala
ENST00000543233.2:c.1576A>G	ENSP00000443301.1:p.Thr526Ala
ENST00000611855.4:c.1516A>G	ENSP00000480844.1:p.Thr506Ala
ENST00000614565.4:c.1798A>G	ENSP00000484928.1:p.Thr600Ala
NM_001252338.2:c.1687A>G	NP_001239267.1:p.Thr563Ala
NM_001252339.2:c.1576A>G	NP_001239268.1:p.Thr526Ala
NM_001794.4:c.1798A>G	NP_001785.2:p.Thr600Ala
NM_001794.5:c.1798A>G MANE Select	NP_001785.2:p.Thr600Ala
NM_001252339.3:c.1576A>G	NP_001239268.1:p.Thr526Ala