Canonical Allele Identifier: CA9934872
Gene: CDH4 HGNC NCBI

Linked Data

dbSNP Id: rs755307987
ExAC: 20:60503257 C / T
gnomAD v2: 20-60503257-C-T
gnomAD v3: 20-61928199-C-T
gnomAD v4: 20-61928199-C-T
COSMIC: COSM2766001
MyVariant Identifiers: chr20:g.60503257C>T (hg19) chr20:g.61928199C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928199C>T , CM000682.2:g.61928199C>T GRCh38
NC_000020.10:g.60503257C>T , CM000682.1:g.60503257C>T GRCh37
NC_000020.9:g.59936652C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1781C>T MANE Select ENSP00000484928.1:p.Pro594Leu
ENST00000543233.2:c.1559C>T ENSP00000443301.1:p.Pro520Leu
ENST00000611855.4:c.1499C>T ENSP00000480844.1:p.Pro500Leu
ENST00000614565.4:c.1781C>T ENSP00000484928.1:p.Pro594Leu
NM_001252338.2:c.1670C>T NP_001239267.1:p.Pro557Leu
NM_001252339.2:c.1559C>T NP_001239268.1:p.Pro520Leu
NM_001794.4:c.1781C>T NP_001785.2:p.Pro594Leu
NM_001794.5:c.1781C>T MANE Select NP_001785.2:p.Pro594Leu
NM_001252339.3:c.1559C>T NP_001239268.1:p.Pro520Leu
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