Canonical Allele Identifier: CA396457625

Gene: CDH1

Linked Data

• ClinVar Variation Id: 633150
• ClinVar RCV Id: RCV000781212 ; RCV000801723 ; RCV001182395 ; RCV003478484
• dbSNP Id: rs1567504543
• gnomAD v4: 16-68808478-G-A
• MyVariant Identifiers: chr16:g.68842381G>A (hg19) ; chr16:g.68808478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808478G>A , CM000678.2:g.68808478G>A	GRCh38
NC_000016.9:g.68842381G>A , CM000678.1:g.68842381G>A	GRCh37
NC_000016.8:g.67399882G>A	NCBI36
NG_008021.1:g.76187G>A , LRG_301:g.76187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.442G>A MANE Select	ENSP00000261769.4:p.Gly148Ser
ENST00000261769.9:c.442G>A	ENSP00000261769.4:p.Gly148Ser
ENST00000422392.6:c.442G>A	ENSP00000414946.2:p.Gly148Ser
ENST00000561751.1:c.209G>A
ENST00000562836.5:n.513G>A
ENST00000564676.5:n.724G>A
ENST00000564745.1:n.437G>A
ENST00000566510.5:c.442G>A	ENSP00000458139.1:p.Gly148Ser
ENST00000566612.5:c.442G>A	ENSP00000454782.1:p.Gly148Ser
ENST00000611625.4:c.442G>A	ENSP00000481063.1:p.Gly148Ser
ENST00000612417.4:c.442G>A	ENSP00000478360.1:p.Gly148Ser
ENST00000621016.4:c.442G>A	ENSP00000480664.1:p.Gly148Ser
NM_004360.3:c.442G>A , LRG_301t1:c.442G>A	NP_004351.1:p.Gly148Ser
XM_011523488.1:c.-294G>A	XP_011521790.1:n.-294G>A
XM_011523489.1:c.-294G>A	XP_011521791.1:n.-294G>A
NM_001317184.1:c.442G>A	NP_001304113.1:p.Gly148Ser
NM_001317185.1:c.-1174G>A	NP_001304114.1:n.-1174G>A
NM_001317186.1:c.-1378G>A	NP_001304115.1:n.-1378G>A
NM_004360.4:c.442G>A	NP_004351.1:p.Gly148Ser
NM_004360.5:c.442G>A MANE Select	NP_004351.1:p.Gly148Ser
NM_001317184.2:c.442G>A	NP_001304113.1:p.Gly148Ser
NM_001317185.2:c.-1174G>A	NP_001304114.1:n.-1174G>A
NM_001317186.2:c.-1378G>A	NP_001304115.1:n.-1378G>A