Canonical Allele Identifier: CA283274400

Gene: CDH1

Linked Data

• ClinVar Variation Id: 491500
• ClinVar RCV Id: RCV000582442 ; RCV001505540 ; RCV003900298
• dbSNP Id: rs374569322
• MyVariant Identifiers: chr16:g.68772305C>T (hg19) ; chr16:g.68738402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68738402C>T , CM000678.2:g.68738402C>T	GRCh38
NC_000016.9:g.68772305C>T , CM000678.1:g.68772305C>T	GRCh37
NC_000016.8:g.67329806C>T	NCBI36
NG_008021.1:g.6111C>T , LRG_301:g.6111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.154C>T MANE Select	ENSP00000261769.4:p.Leu52=
ENST00000261769.9:c.154C>T	ENSP00000261769.4:p.Leu52=
ENST00000422392.6:c.154C>T	ENSP00000414946.2:p.Leu52=
ENST00000566510.5:c.154C>T	ENSP00000458139.1:p.Leu52=
ENST00000566612.5:c.154C>T	ENSP00000454782.1:p.Leu52=
ENST00000611625.4:c.154C>T	ENSP00000481063.1:p.Leu52=
ENST00000612417.4:c.154C>T	ENSP00000478360.1:p.Leu52=
ENST00000621016.4:c.154C>T	ENSP00000480664.1:p.Leu52=
NM_004360.3:c.154C>T , LRG_301t1:c.154C>T	NP_004351.1:p.Leu52=
NM_001317184.1:c.154C>T	NP_001304113.1:p.Leu52=
NM_001317185.1:c.-1462C>T	NP_001304114.1:n.-1462C>T
NM_001317186.1:c.-1666C>T	NP_001304115.1:n.-1666C>T
NM_004360.4:c.154C>T	NP_004351.1:p.Leu52=
NM_004360.5:c.154C>T MANE Select	NP_004351.1:p.Leu52=
NM_001317184.2:c.154C>T	NP_001304113.1:p.Leu52=
NM_001317185.2:c.-1462C>T	NP_001304114.1:n.-1462C>T
NM_001317186.2:c.-1666C>T	NP_001304115.1:n.-1666C>T