Canonical Allele Identifier: CA9934884
Gene: CDH4 HGNC NCBI

Linked Data

dbSNP Id: rs150253018
ExAC: 20:60503310 G / A
gnomAD v2: 20-60503310-G-A
gnomAD v3: 20-61928252-G-A
gnomAD v4: 20-61928252-G-A
COSMIC: COSM1028762
MyVariant Identifiers: chr20:g.60503310G>A (hg19) chr20:g.61928252G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928252G>A , CM000682.2:g.61928252G>A GRCh38
NC_000020.10:g.60503310G>A , CM000682.1:g.60503310G>A GRCh37
NC_000020.9:g.59936705G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1834G>A MANE Select ENSP00000484928.1:p.Ala612Thr
ENST00000543233.2:c.1612G>A ENSP00000443301.1:p.Ala538Thr
ENST00000611855.4:c.1552G>A ENSP00000480844.1:p.Ala518Thr
ENST00000614565.4:c.1834G>A ENSP00000484928.1:p.Ala612Thr
NM_001252338.2:c.1723G>A NP_001239267.1:p.Ala575Thr
NM_001252339.2:c.1612G>A NP_001239268.1:p.Ala538Thr
NM_001794.4:c.1834G>A NP_001785.2:p.Ala612Thr
NM_001794.5:c.1834G>A MANE Select NP_001785.2:p.Ala612Thr
NM_001252339.3:c.1612G>A NP_001239268.1:p.Ala538Thr
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