Canonical Allele Identifier: CA355755724
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

gnomAD v4: 3-190310232-G-A
MyVariant Identifiers: chr3:g.190028021G>A (hg19) chr3:g.190310232G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310232G>A , CM000665.2:g.190310232G>A GRCh38
NC_000003.11:g.190028021G>A , CM000665.1:g.190028021G>A GRCh37
NC_000003.10:g.191510715G>A NCBI36
NG_021418.1:g.17215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.410C>T (CLDN1) MANE Select ENSP00000295522.3:p.Thr137Ile
ENST00000295522.3:c.410C>T (CLDN1) ENSP00000295522.3:p.Thr137Ile
ENST00000490800.1:n.369C>T (CLDN1)
NM_021101.4:c.410C>T (CLDN1) NP_066924.1:p.Thr137Ile
XR_001741069.1:n.203-4661G>A
NM_021101.5:c.410C>T (CLDN1) MANE Select NP_066924.1:p.Thr137Ile
NM_001378492.1:c.-445-4661G>A (CLDN16) NP_001365421.1:n.-445-4661G>A
NM_001378493.1:c.-279+19641G>A (CLDN16) NP_001365422.1:n.-279+19641G>A
Search 100 bp 5'
Search 100 bp 3'