Canonical Allele Identifier: CA334359

Gene: CDH1

Linked Data

• ClinVar Variation Id: 188218
• ClinVar RCV Id: RCV001012928 ; RCV001544839
• dbSNP Id: rs786204155
• gnomAD v4: 16-68822027-A-G
• MyVariant Identifiers: chr16:g.68855930A>G (hg19) ; chr16:g.68822027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822027A>G , CM000678.2:g.68822027A>G	GRCh38
NC_000016.9:g.68855930A>G , CM000678.1:g.68855930A>G	GRCh37
NC_000016.8:g.67413431A>G	NCBI36
NG_008021.1:g.89736A>G , LRG_301:g.89736A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1738A>G MANE Select	ENSP00000261769.4:p.Thr580Ala
ENST00000261769.9:c.1738A>G	ENSP00000261769.4:p.Thr580Ala
ENST00000422392.6:c.1555A>G	ENSP00000414946.2:p.Thr519Ala
ENST00000562836.5:n.1809A>G
ENST00000566510.5:c.*404A>G	ENSP00000458139.1:n.*404A>G
ENST00000566612.5:c.1592A>G	ENSP00000454782.1:p.Asp531Gly
ENST00000611625.4:c.1801A>G	ENSP00000481063.1:p.Thr601Ala
ENST00000612417.4:c.1738A>G	ENSP00000478360.1:p.Thr580Ala
ENST00000621016.4:c.1738A>G	ENSP00000480664.1:p.Thr580Ala
NM_004360.3:c.1738A>G , LRG_301t1:c.1738A>G	NP_004351.1:p.Thr580Ala
XM_011523488.1:c.1003A>G	XP_011521790.1:p.Thr335Ala
XM_011523489.1:c.1003A>G	XP_011521791.1:p.Thr335Ala
NM_001317184.1:c.1555A>G	NP_001304113.1:p.Thr519Ala
NM_001317185.1:c.190A>G	NP_001304114.1:p.Thr64Ala
NM_001317186.1:c.-228A>G	NP_001304115.1:n.-228A>G
NM_004360.4:c.1738A>G	NP_004351.1:p.Thr580Ala
NM_004360.5:c.1738A>G MANE Select	NP_004351.1:p.Thr580Ala
NM_001317184.2:c.1555A>G	NP_001304113.1:p.Thr519Ala
NM_001317185.2:c.190A>G	NP_001304114.1:p.Thr64Ala
NM_001317186.2:c.-228A>G	NP_001304115.1:n.-228A>G