Canonical Allele Identifier: CA2753733
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 344447
ClinVar RCV Id: RCV000346413 RCV000974602
dbSNP Id: rs149116671
ExAC: 3:190106163 C / G
gnomAD v2: 3-190106163-C-G
gnomAD v3: 3-190388374-C-G
gnomAD v4: 3-190388374-C-G
MyVariant Identifiers: chr3:g.190106163C>G (hg19) chr3:g.190388374C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190388374C>G , CM000665.2:g.190388374C>G GRCh38
NC_000003.11:g.190106163C>G , CM000665.1:g.190106163C>G GRCh37
NC_000003.10:g.191588857C>G NCBI36
NG_008149.1:g.5323C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264734.3:c.45C>G MANE Select ENSP00000264734.3:p.Phe15Leu
ENST00000456423.2:c.45C>G ENSP00000414136.2:p.Phe15Leu
ENST00000264734.2:c.255C>G ENSP00000264734.2:p.Phe85Leu
ENST00000456423.1:c.255C>G ENSP00000414136.1:p.Phe85Leu
ENST00000468220.1:n.306+13771C>G
NM_006580.3:c.255C>G NP_006571.1:p.Phe85Leu
NM_001378492.1:c.45C>G NP_001365421.1:p.Phe15Leu
NM_001378493.1:c.45C>G NP_001365422.1:p.Phe15Leu
NM_006580.4:c.45C>G MANE Select NP_006571.2:p.Phe15Leu
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