Canonical Allele Identifier: CA2753662
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs746905168
ExAC: 3:190040027 G / A
gnomAD v2: 3-190040027-G-A
gnomAD v4: 3-190322238-G-A
MyVariant Identifiers: chr3:g.190040027G>A (hg19) chr3:g.190322238G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322238G>A , CM000665.2:g.190322238G>A GRCh38
NC_000003.11:g.190040027G>A , CM000665.1:g.190040027G>A GRCh37
NC_000003.10:g.191522721G>A NCBI36
NG_021418.1:g.5209C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295522.4:c.-32C>T (CLDN1) MANE Select ENSP00000295522.3:n.-32C>T
ENST00000295522.3:c.-32C>T (CLDN1) ENSP00000295522.3:n.-32C>T
NM_021101.4:c.-32C>T (CLDN1) NP_066924.1:n.-32C>T
NM_021101.5:c.-32C>T (CLDN1) MANE Select NP_066924.1:n.-32C>T
NM_001378492.1:c.-279+7179G>A (CLDN16) NP_001365421.1:n.-279+7179G>A
NM_001378493.1:c.-279+31647G>A (CLDN16) NP_001365422.1:n.-279+31647G>A
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