Canonical Allele Identifier: CA2753623
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 285502
ClinVar RCV Id: RCV000370360 RCV000973681
dbSNP Id: rs142242567
ExAC: 3:190039849 C / T
gnomAD v2: 3-190039849-C-T
gnomAD v3: 3-190322060-C-T
gnomAD v4: 3-190322060-C-T
MyVariant Identifiers: chr3:g.190039849C>T (hg19) chr3:g.190322060C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322060C>T , CM000665.2:g.190322060C>T GRCh38
NC_000003.11:g.190039849C>T , CM000665.1:g.190039849C>T GRCh37
NC_000003.10:g.191522543C>T NCBI36
NG_021418.1:g.5387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.147G>A (CLDN1) MANE Select ENSP00000295522.3:p.Gly49=
ENST00000295522.3:c.147G>A (CLDN1) ENSP00000295522.3:p.Gly49=
NM_021101.4:c.147G>A (CLDN1) NP_066924.1:p.Gly49=
NM_021101.5:c.147G>A (CLDN1) MANE Select NP_066924.1:p.Gly49=
NM_001378492.1:c.-279+7001C>T (CLDN16) NP_001365421.1:n.-279+7001C>T
NM_001378493.1:c.-279+31469C>T (CLDN16) NP_001365422.1:n.-279+31469C>T
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