Canonical Allele Identifier: CA2753712
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 344445
ClinVar RCV Id: RCV001520213
dbSNP Id: rs3214506
ExAC: 3:190106074 G / C
gnomAD v2: 3-190106074-G-C
gnomAD v3: 3-190388285-G-C
gnomAD v4: 3-190388285-G-C
MyVariant Identifiers: chr3:g.190106074G>C (hg19) chr3:g.190388285G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190388285G>C , CM000665.2:g.190388285G>C GRCh38
NC_000003.11:g.190106074G>C , CM000665.1:g.190106074G>C GRCh37
NC_000003.10:g.191588768G>C NCBI36
NG_008149.1:g.5234G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264734.3:c.-45G>C MANE Select ENSP00000264734.3:n.-45G>C
ENST00000456423.2:c.-45G>C ENSP00000414136.2:n.-45G>C
ENST00000264734.2:c.166G>C ENSP00000264734.2:p.Ala56Pro
ENST00000456423.1:c.166G>C ENSP00000414136.1:p.Ala56Pro
ENST00000468220.1:n.306+13682G>C
NM_006580.3:c.166G>C NP_006571.1:p.Ala56Pro
NM_001378492.1:c.-45G>C NP_001365421.1:n.-45G>C
NM_001378493.1:c.-45G>C NP_001365422.1:n.-45G>C
NM_006580.4:c.-45G>C MANE Select NP_006571.2:n.-45G>C
Search 100 bp 5'
Search 100 bp 3'