Canonical Allele Identifier: CA355767087
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1301688
ClinVar RCV Id: RCV001733637
dbSNP Id: rs1170178042

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190408397C>A , CM000665.2:g.190408397C>A GRCh38
NC_000003.11:g.190126186C>A , CM000665.1:g.190126186C>A GRCh37
NC_000003.10:g.191608880C>A NCBI36
NG_008149.1:g.25346C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264734.3:c.466C>A MANE Select ENSP00000264734.3:p.Leu156Ile
ENST00000456423.2:c.115-1506C>A ENSP00000414136.2:n.115-1506C>A
ENST00000264734.2:c.676C>A ENSP00000264734.2:p.Leu226Ile
ENST00000456423.1:c.325-1506C>A ENSP00000414136.1:n.325-1506C>A
NM_006580.3:c.676C>A NP_006571.1:p.Leu226Ile
NM_001378492.1:c.466C>A NP_001365421.1:p.Leu156Ile
NM_001378493.1:c.466C>A NP_001365422.1:p.Leu156Ile
NM_006580.4:c.466C>A MANE Select NP_006571.2:p.Leu156Ile