Canonical Allele Identifier: CA2753533
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs757249673
ExAC: 3:190027973 G / A
gnomAD v2: 3-190027973-G-A
gnomAD v3: 3-190310184-G-A
gnomAD v4: 3-190310184-G-A
MyVariant Identifiers: chr3:g.190027973G>A (hg19) chr3:g.190310184G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310184G>A , CM000665.2:g.190310184G>A GRCh38
NC_000003.11:g.190027973G>A , CM000665.1:g.190027973G>A GRCh37
NC_000003.10:g.191510667G>A NCBI36
NG_021418.1:g.17263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.458C>T (CLDN1) MANE Select ENSP00000295522.3:p.Thr153Ile
ENST00000295522.3:c.458C>T (CLDN1) ENSP00000295522.3:p.Thr153Ile
ENST00000490800.1:n.417C>T (CLDN1)
NM_021101.4:c.458C>T (CLDN1) NP_066924.1:p.Thr153Ile
XR_001741069.1:n.203-4709G>A
NM_021101.5:c.458C>T (CLDN1) MANE Select NP_066924.1:p.Thr153Ile
NM_001378492.1:c.-445-4709G>A (CLDN16) NP_001365421.1:n.-445-4709G>A
NM_001378493.1:c.-279+19593G>A (CLDN16) NP_001365422.1:n.-279+19593G>A
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