Canonical Allele Identifier: CA317137631

Gene: CDH4

Linked Data

• dbSNP Id: rs779693148
• gnomAD v2: 20-60503377-C-A
• gnomAD v3: 20-61928319-C-A
• gnomAD v4: 20-61928319-C-A
• MyVariant Identifiers: chr20:g.60503377C>A (hg19) ; chr20:g.61928319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.61928319C>A , CM000682.2:g.61928319C>A	GRCh38
NC_000020.10:g.60503377C>A , CM000682.1:g.60503377C>A	GRCh37
NC_000020.9:g.59936772C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1901C>A MANE Select	ENSP00000484928.1:p.Thr634Lys
ENST00000543233.2:c.1679C>A	ENSP00000443301.1:p.Thr560Lys
ENST00000611855.4:c.1619C>A	ENSP00000480844.1:p.Thr540Lys
ENST00000614565.4:c.1901C>A	ENSP00000484928.1:p.Thr634Lys
NM_001252338.2:c.1790C>A	NP_001239267.1:p.Thr597Lys
NM_001252339.2:c.1679C>A	NP_001239268.1:p.Thr560Lys
NM_001794.4:c.1901C>A	NP_001785.2:p.Thr634Lys
NM_001794.5:c.1901C>A MANE Select	NP_001785.2:p.Thr634Lys
NM_001252339.3:c.1679C>A	NP_001239268.1:p.Thr560Lys