Canonical Allele Identifier: CA2753696
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1468455
ClinVar RCV Id: RCV001993672
dbSNP Id: rs762080532
ExAC: 3:190106021 G / A
gnomAD v2: 3-190106021-G-A
gnomAD v3: 3-190388232-G-A
gnomAD v4: 3-190388232-G-A
MyVariant Identifiers: chr3:g.190106021G>A (hg19) chr3:g.190388232G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190388232G>A , CM000665.2:g.190388232G>A GRCh38
NC_000003.11:g.190106021G>A , CM000665.1:g.190106021G>A GRCh37
NC_000003.10:g.191588715G>A NCBI36
NG_008149.1:g.5181G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264734.3:c.-98G>A MANE Select ENSP00000264734.3:n.-98G>A
ENST00000456423.2:c.-98G>A ENSP00000414136.2:n.-98G>A
ENST00000264734.2:c.113G>A ENSP00000264734.2:p.Cys38Tyr
ENST00000456423.1:c.113G>A ENSP00000414136.1:p.Cys38Tyr
ENST00000468220.1:n.306+13629G>A
NM_006580.3:c.113G>A NP_006571.1:p.Cys38Tyr
NM_001378492.1:c.-93-5G>A NP_001365421.1:n.-93-5G>A
NM_001378493.1:c.-93-5G>A NP_001365422.1:n.-93-5G>A
NM_006580.4:c.-98G>A MANE Select NP_006571.2:n.-98G>A
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