Canonical Allele Identifier: CA496153964

Gene: CDH1

Linked Data

• ClinVar Variation Id: 463714
• ClinVar RCV Id: RCV000537136 ; RCV001011350
• dbSNP Id: rs1555516122
• gnomAD v4: 16-68815598-C-G
• MyVariant Identifiers: chr16:g.68849501C>G (hg19) ; chr16:g.68815598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815598C>G , CM000678.2:g.68815598C>G	GRCh38
NC_000016.9:g.68849501C>G , CM000678.1:g.68849501C>G	GRCh37
NC_000016.8:g.67407002C>G	NCBI36
NG_008021.1:g.83307C>G , LRG_301:g.83307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1404C>G MANE Select	ENSP00000261769.4:p.Thr468=
ENST00000261769.9:c.1404C>G	ENSP00000261769.4:p.Thr468=
ENST00000422392.6:c.1221C>G	ENSP00000414946.2:p.Thr407=
ENST00000562836.5:n.1475C>G
ENST00000566510.5:c.*70C>G	ENSP00000458139.1:n.*70C>G
ENST00000566612.5:c.1404C>G	ENSP00000454782.1:p.Thr468=
ENST00000611625.4:c.1467C>G	ENSP00000481063.1:p.Thr489=
ENST00000612417.4:c.1404C>G	ENSP00000478360.1:p.Thr468=
ENST00000621016.4:c.1404C>G	ENSP00000480664.1:p.Thr468=
NM_004360.3:c.1404C>G , LRG_301t1:c.1404C>G	NP_004351.1:p.Thr468=
XM_011523488.1:c.669C>G	XP_011521790.1:p.Thr223=
XM_011523489.1:c.669C>G	XP_011521791.1:p.Thr223=
NM_001317184.1:c.1221C>G	NP_001304113.1:p.Thr407=
NM_001317185.1:c.-145C>G	NP_001304114.1:n.-145C>G
NM_001317186.1:c.-416C>G	NP_001304115.1:n.-416C>G
NM_004360.4:c.1404C>G	NP_004351.1:p.Thr468=
NM_004360.5:c.1404C>G MANE Select	NP_004351.1:p.Thr468=
NM_001317184.2:c.1221C>G	NP_001304113.1:p.Thr407=
NM_001317185.2:c.-145C>G	NP_001304114.1:n.-145C>G
NM_001317186.2:c.-416C>G	NP_001304115.1:n.-416C>G