Canonical Allele Identifier: CA409508817

Gene: CDH4

Linked Data

• gnomAD v4: 20-61928252-G-C
• MyVariant Identifiers: chr20:g.60503310G>C (hg19) ; chr20:g.61928252G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614565.5:c.1834G>C MANE Select	ENSP00000484928.1:p.Ala612Pro
ENST00000543233.2:c.1612G>C	ENSP00000443301.1:p.Ala538Pro
ENST00000611855.4:c.1552G>C	ENSP00000480844.1:p.Ala518Pro
ENST00000614565.4:c.1834G>C	ENSP00000484928.1:p.Ala612Pro
NM_001252338.2:c.1723G>C	NP_001239267.1:p.Ala575Pro
NM_001252339.2:c.1612G>C	NP_001239268.1:p.Ala538Pro
NM_001794.4:c.1834G>C	NP_001785.2:p.Ala612Pro
NM_001794.5:c.1834G>C MANE Select	NP_001785.2:p.Ala612Pro
NM_001252339.3:c.1612G>C	NP_001239268.1:p.Ala538Pro