Canonical Allele Identifier: CA396451272
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs786201287
gnomAD v4: 16-68737430-C-A
MyVariant Identifiers: chr16:g.68771333C>A (hg19) chr16:g.68737430C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737430C>A , CM000678.2:g.68737430C>A GRCh38
NC_000016.9:g.68771333C>A , CM000678.1:g.68771333C>A GRCh37
NC_000016.8:g.67328834C>A NCBI36
NG_008021.1:g.5139C>A , LRG_301:g.5139C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.15C>A MANE Select ENSP00000261769.4:p.Ser5Arg
ENST00000261769.9:c.15C>A ENSP00000261769.4:p.Ser5Arg
ENST00000422392.6:c.15C>A ENSP00000414946.2:p.Ser5Arg
ENST00000566510.5:c.15C>A ENSP00000458139.1:p.Ser5Arg
ENST00000566612.5:c.15C>A ENSP00000454782.1:p.Ser5Arg
ENST00000611625.4:c.15C>A ENSP00000481063.1:p.Ser5Arg
ENST00000612417.4:c.15C>A ENSP00000478360.1:p.Ser5Arg
ENST00000621016.4:c.15C>A ENSP00000480664.1:p.Ser5Arg
NM_004360.3:c.15C>A , LRG_301t1:c.15C>A NP_004351.1:p.Ser5Arg
NM_001317184.1:c.15C>A NP_001304113.1:p.Ser5Arg
NM_001317185.1:c.-1601C>A NP_001304114.1:n.-1601C>A
NM_001317186.1:c.-1805C>A NP_001304115.1:n.-1805C>A
NM_004360.4:c.15C>A NP_004351.1:p.Ser5Arg
NM_004360.5:c.15C>A MANE Select NP_004351.1:p.Ser5Arg
NM_001317184.2:c.15C>A NP_001304113.1:p.Ser5Arg
NM_001317185.2:c.-1601C>A NP_001304114.1:n.-1601C>A
NM_001317186.2:c.-1805C>A NP_001304115.1:n.-1805C>A
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