Canonical Allele Identifier: CA16615367

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406623
• ClinVar RCV Id: RCV000474205
• dbSNP Id: rs1060501220
• MyVariant Identifiers: chr16:g.68842339G>A (hg19) ; chr16:g.68808436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808436G>A , CM000678.2:g.68808436G>A	GRCh38
NC_000016.9:g.68842339G>A , CM000678.1:g.68842339G>A	GRCh37
NC_000016.8:g.67399840G>A	NCBI36
NG_008021.1:g.76145G>A , LRG_301:g.76145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.400G>A MANE Select	ENSP00000261769.4:p.Gly134Arg
ENST00000261769.9:c.400G>A	ENSP00000261769.4:p.Gly134Arg
ENST00000422392.6:c.400G>A	ENSP00000414946.2:p.Gly134Arg
ENST00000561751.1:c.167G>A
ENST00000562836.5:n.471G>A
ENST00000564676.5:n.682G>A
ENST00000564745.1:n.395G>A
ENST00000566510.5:c.400G>A	ENSP00000458139.1:p.Gly134Arg
ENST00000566612.5:c.400G>A	ENSP00000454782.1:p.Gly134Arg
ENST00000611625.4:c.400G>A	ENSP00000481063.1:p.Gly134Arg
ENST00000612417.4:c.400G>A	ENSP00000478360.1:p.Gly134Arg
ENST00000621016.4:c.400G>A	ENSP00000480664.1:p.Gly134Arg
NM_004360.3:c.400G>A , LRG_301t1:c.400G>A	NP_004351.1:p.Gly134Arg
XM_011523488.1:c.-336G>A	XP_011521790.1:n.-336G>A
XM_011523489.1:c.-336G>A	XP_011521791.1:n.-336G>A
NM_001317184.1:c.400G>A	NP_001304113.1:p.Gly134Arg
NM_001317185.1:c.-1216G>A	NP_001304114.1:n.-1216G>A
NM_001317186.1:c.-1420G>A	NP_001304115.1:n.-1420G>A
NM_004360.4:c.400G>A	NP_004351.1:p.Gly134Arg
NM_004360.5:c.400G>A MANE Select	NP_004351.1:p.Gly134Arg
NM_001317184.2:c.400G>A	NP_001304113.1:p.Gly134Arg
NM_001317185.2:c.-1216G>A	NP_001304114.1:n.-1216G>A
NM_001317186.2:c.-1420G>A	NP_001304115.1:n.-1420G>A