Canonical Allele Identifier: CA396472561

Gene: CDH1

Linked Data

• dbSNP Id: rs1185746867
• gnomAD v2: 16-68867334-T-C
• gnomAD v4: 16-68833431-T-C
• MyVariant Identifiers: chr16:g.68867334T>C (hg19) ; chr16:g.68833431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833431T>C , CM000678.2:g.68833431T>C	GRCh38
NC_000016.9:g.68867334T>C , CM000678.1:g.68867334T>C	GRCh37
NC_000016.8:g.67424835T>C	NCBI36
NG_008021.1:g.101140T>C , LRG_301:g.101140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2581T>C MANE Select	ENSP00000261769.4:p.Tyr861His
ENST00000261769.9:c.2581T>C	ENSP00000261769.4:p.Tyr861His
ENST00000422392.6:c.2398T>C	ENSP00000414946.2:p.Tyr800His
ENST00000562118.1:n.799T>C
ENST00000562836.5:n.2652T>C
ENST00000566510.5:c.*1247T>C	ENSP00000458139.1:n.*1247T>C
ENST00000566612.5:c.*821T>C	ENSP00000454782.1:n.*821T>C
ENST00000611625.4:c.2644T>C	ENSP00000481063.1:p.Tyr882His
ENST00000612417.4:c.1854-760T>C	ENSP00000478360.1:n.1854-760T>C
ENST00000621016.4:c.1866-772T>C	ENSP00000480664.1:n.1866-772T>C
NM_004360.3:c.2581T>C , LRG_301t1:c.2581T>C	NP_004351.1:p.Tyr861His
XM_011523488.1:c.1846T>C	XP_011521790.1:p.Tyr616His
XM_011523489.1:c.1846T>C	XP_011521791.1:p.Tyr616His
NM_001317184.1:c.2398T>C	NP_001304113.1:p.Tyr800His
NM_001317185.1:c.1033T>C	NP_001304114.1:p.Tyr345His
NM_001317186.1:c.616T>C	NP_001304115.1:p.Tyr206His
NM_004360.4:c.2581T>C	NP_004351.1:p.Tyr861His
NM_004360.5:c.2581T>C MANE Select	NP_004351.1:p.Tyr861His
NM_001317184.2:c.2398T>C	NP_001304113.1:p.Tyr800His
NM_001317185.2:c.1033T>C	NP_001304114.1:p.Tyr345His
NM_001317186.2:c.616T>C	NP_001304115.1:p.Tyr206His