Canonical Allele Identifier: CA2753757
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1342118
ClinVar RCV Id: RCV001837708
dbSNP Id: rs79157522
ExAC: 3:190120096 G / A
gnomAD v2: 3-190120096-G-A
gnomAD v3: 3-190402307-G-A
gnomAD v4: 3-190402307-G-A
MyVariant Identifiers: chr3:g.190120096G>A (hg19) chr3:g.190402307G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190402307G>A , CM000665.2:g.190402307G>A GRCh38
NC_000003.11:g.190120096G>A , CM000665.1:g.190120096G>A GRCh37
NC_000003.10:g.191602790G>A NCBI36
NG_008149.1:g.19256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264734.3:c.115-30G>A MANE Select ENSP00000264734.3:n.115-30G>A
ENST00000456423.2:c.115-7596G>A ENSP00000414136.2:n.115-7596G>A
ENST00000264734.2:c.325-30G>A ENSP00000264734.2:n.325-30G>A
ENST00000456423.1:c.325-7596G>A ENSP00000414136.1:n.325-7596G>A
ENST00000468220.1:n.307-30G>A
NM_006580.3:c.325-30G>A NP_006571.1:n.325-30G>A
NM_001378492.1:c.115-30G>A NP_001365421.1:n.115-30G>A
NM_001378493.1:c.115-30G>A NP_001365422.1:n.115-30G>A
NM_006580.4:c.115-30G>A MANE Select NP_006571.2:n.115-30G>A
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