Canonical Allele Identifier: CA355762406

Gene: CLDN16

Linked Data

• dbSNP Id: rs749083950
• gnomAD v4: 3-190388262-C-T
• MyVariant Identifiers: chr3:g.190106051C>T (hg19) ; chr3:g.190388262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190388262C>T , CM000665.2:g.190388262C>T	GRCh38
NC_000003.11:g.190106051C>T , CM000665.1:g.190106051C>T	GRCh37
NC_000003.10:g.191588745C>T	NCBI36
NG_008149.1:g.5211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.-68C>T MANE Select	ENSP00000264734.3:n.-68C>T
ENST00000456423.2:c.-68C>T	ENSP00000414136.2:n.-68C>T
ENST00000264734.2:c.143C>T	ENSP00000264734.2:p.Thr48Ile
ENST00000456423.1:c.143C>T	ENSP00000414136.1:p.Thr48Ile
ENST00000468220.1:n.306+13659C>T
NM_006580.3:c.143C>T	NP_006571.1:p.Thr48Ile
NM_001378492.1:c.-68C>T	NP_001365421.1:n.-68C>T
NM_001378493.1:c.-68C>T	NP_001365422.1:n.-68C>T
NM_006580.4:c.-68C>T MANE Select	NP_006571.2:n.-68C>T