Canonical Allele Identifier: CA117867
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 5934
dbSNP Id: rs104893729

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190404787G>T , CM000665.2:g.190404787G>T GRCh38
NC_000003.11:g.190122576G>T , CM000665.1:g.190122576G>T GRCh37
NC_000003.10:g.191605270G>T NCBI36
NG_008149.1:g.21736G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264734.3:c.243G>T MANE Select ENSP00000264734.3:p.Leu81Phe
ENST00000456423.2:c.115-5116G>T ENSP00000414136.2:n.115-5116G>T
ENST00000264734.2:c.453G>T ENSP00000264734.2:p.Leu151Phe
ENST00000456423.1:c.325-5116G>T ENSP00000414136.1:n.325-5116G>T
ENST00000468220.1:n.435G>T
NM_006580.3:c.453G>T NP_006571.1:p.Leu151Phe
NM_001378492.1:c.243G>T NP_001365421.1:p.Leu81Phe
NM_001378493.1:c.243G>T NP_001365422.1:p.Leu81Phe
NM_006580.4:c.243G>T MANE Select NP_006571.2:p.Leu81Phe