Canonical Allele Identifier: CA9934912

Gene: CDH4

Linked Data

• dbSNP Id: rs762450447
• ExAC: 20:60503410 G / T
• gnomAD v2: 20-60503410-G-T
• gnomAD v4: 20-61928352-G-T
• MyVariant Identifiers: chr20:g.60503410G>T (hg19) ; chr20:g.61928352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928352G>T , CM000682.2:g.61928352G>T	GRCh38
NC_000020.10:g.60503410G>T , CM000682.1:g.60503410G>T	GRCh37
NC_000020.9:g.59936805G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1934G>T MANE Select	ENSP00000484928.1:p.Gly645Val
ENST00000543233.2:c.1712G>T	ENSP00000443301.1:p.Gly571Val
ENST00000611855.4:c.1652G>T	ENSP00000480844.1:p.Gly551Val
ENST00000614565.4:c.1934G>T	ENSP00000484928.1:p.Gly645Val
NM_001252338.2:c.1823G>T	NP_001239267.1:p.Gly608Val
NM_001252339.2:c.1712G>T	NP_001239268.1:p.Gly571Val
NM_001794.4:c.1934G>T	NP_001785.2:p.Gly645Val
NM_001794.5:c.1934G>T MANE Select	NP_001785.2:p.Gly645Val
NM_001252339.3:c.1712G>T	NP_001239268.1:p.Gly571Val