Canonical Allele Identifier: CA355758541
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.190039910T>G (hg19) chr3:g.190322121T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322121T>G , CM000665.2:g.190322121T>G GRCh38
NC_000003.11:g.190039910T>G , CM000665.1:g.190039910T>G GRCh37
NC_000003.10:g.191522604T>G NCBI36
NG_021418.1:g.5326A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295522.4:c.86A>C (CLDN1) MANE Select ENSP00000295522.3:p.Gln29Pro
ENST00000295522.3:c.86A>C (CLDN1) ENSP00000295522.3:p.Gln29Pro
NM_021101.4:c.86A>C (CLDN1) NP_066924.1:p.Gln29Pro
NM_021101.5:c.86A>C (CLDN1) MANE Select NP_066924.1:p.Gln29Pro
NM_001378492.1:c.-279+7062T>G (CLDN16) NP_001365421.1:n.-279+7062T>G
NM_001378493.1:c.-279+31530T>G (CLDN16) NP_001365422.1:n.-279+31530T>G
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