Canonical Allele Identifier: CA355755712
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs1376097484
gnomAD v4: 3-190310225-C-T
MyVariant Identifiers: chr3:g.190028014C>T (hg19) chr3:g.190310225C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310225C>T , CM000665.2:g.190310225C>T GRCh38
NC_000003.11:g.190028014C>T , CM000665.1:g.190028014C>T GRCh37
NC_000003.10:g.191510708C>T NCBI36
NG_021418.1:g.17222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.417G>A (CLDN1) MANE Select ENSP00000295522.3:p.Trp139Ter
ENST00000295522.3:c.417G>A (CLDN1) ENSP00000295522.3:p.Trp139Ter
ENST00000490800.1:n.376G>A (CLDN1)
NM_021101.4:c.417G>A (CLDN1) NP_066924.1:p.Trp139Ter
XR_001741069.1:n.203-4668C>T
NM_021101.5:c.417G>A (CLDN1) MANE Select NP_066924.1:p.Trp139Ter
NM_001378492.1:c.-445-4668C>T (CLDN16) NP_001365421.1:n.-445-4668C>T
NM_001378493.1:c.-279+19634C>T (CLDN16) NP_001365422.1:n.-279+19634C>T
Search 100 bp 5'
Search 100 bp 3'