Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA723156440

Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1279538339

gnomAD v4: 16-68737271-T-C

MyVariant Identifiers: chr16:g.68771174T>C (hg19) chr16:g.68737271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68737271T>C , CM000678.2:g.68737271T>C	GRCh38
NC_000016.9:g.68771174T>C , CM000678.1:g.68771174T>C	GRCh37
NC_000016.8:g.67328675T>C	NCBI36
NG_008021.1:g.4980T>C , LRG_301:g.4980T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.9:c.-145T>C	ENSP00000261769.4:n.-145T>C

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