Canonical Allele Identifier: CA283273621

Gene: CDH1

Linked Data

• dbSNP Id: rs199960862
• gnomAD v2: 16-68771414-T-C
• gnomAD v4: 16-68737511-T-C
• COSMIC: COSN23205420
• MyVariant Identifiers: chr16:g.68771414T>C (hg19) ; chr16:g.68737511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68737511T>C , CM000678.2:g.68737511T>C	GRCh38
NC_000016.9:g.68771414T>C , CM000678.1:g.68771414T>C	GRCh37
NC_000016.8:g.67328915T>C	NCBI36
NG_008021.1:g.5220T>C , LRG_301:g.5220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.48+48T>C MANE Select	ENSP00000261769.4:n.48+48T>C
ENST00000261769.9:c.48+48T>C	ENSP00000261769.4:n.48+48T>C
ENST00000422392.6:c.48+48T>C	ENSP00000414946.2:n.48+48T>C
ENST00000566510.5:c.48+48T>C	ENSP00000458139.1:n.48+48T>C
ENST00000566612.5:c.48+48T>C	ENSP00000454782.1:n.48+48T>C
ENST00000611625.4:c.48+48T>C	ENSP00000481063.1:n.48+48T>C
ENST00000612417.4:c.48+48T>C	ENSP00000478360.1:n.48+48T>C
ENST00000621016.4:c.48+48T>C	ENSP00000480664.1:n.48+48T>C
NM_004360.3:c.48+48T>C , LRG_301t1:c.48+48T>C	NP_004351.1:n.48+48T>C
NM_001317184.1:c.48+48T>C	NP_001304113.1:n.48+48T>C
NM_001317185.1:c.-1568+48T>C	NP_001304114.1:n.-1568+48T>C
NM_001317186.1:c.-1772+48T>C	NP_001304115.1:n.-1772+48T>C
NM_004360.4:c.48+48T>C	NP_004351.1:n.48+48T>C
NM_004360.5:c.48+48T>C MANE Select	NP_004351.1:n.48+48T>C
NM_001317184.2:c.48+48T>C	NP_001304113.1:n.48+48T>C
NM_001317185.2:c.-1568+48T>C	NP_001304114.1:n.-1568+48T>C
NM_001317186.2:c.-1772+48T>C	NP_001304115.1:n.-1772+48T>C