ClinGen Allele Registry
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Canonical Allele Identifier:
CA355762179
Gene: CLDN16
HGNC
NCBI
Linked Data
dbSNP Id:
rs1322456654
gnomAD v2:
3-190105949-A-C
gnomAD v3:
3-190388160-A-C
gnomAD v4:
3-190388160-A-C
MyVariant Identifiers:
chr3:g.190105949A>C (hg19)
chr3:g.190388160A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.190388160A>C , CM000665.2:g.190388160A>C
GRCh38
NC_000003.11:g.190105949A>C , CM000665.1:g.190105949A>C
GRCh37
NC_000003.10:g.191588643A>C
NCBI36
NG_008149.1:g.5109A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000456423.2:c.-170A>C
ENSP00000414136.2:n.-170A>C
ENST00000264734.2:c.41A>C
ENSP00000264734.2:p.Tyr14Ser
ENST00000456423.1:c.41A>C
ENSP00000414136.1:p.Tyr14Ser
ENST00000468220.1:n.306+13557A>C
NM_006580.3:c.41A>C
NP_006571.1:p.Tyr14Ser
NM_001378492.1:c.-93-77A>C
NP_001365421.1:n.-93-77A>C
NM_001378493.1:c.-93-77A>C
NP_001365422.1:n.-93-77A>C
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