Canonical Allele Identifier: CA355755614
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.190027989A>G (hg19) chr3:g.190310200A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310200A>G , CM000665.2:g.190310200A>G GRCh38
NC_000003.11:g.190027989A>G , CM000665.1:g.190027989A>G GRCh37
NC_000003.10:g.191510683A>G NCBI36
NG_021418.1:g.17247T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.442T>C (CLDN1) MANE Select ENSP00000295522.3:p.Phe148Leu
ENST00000295522.3:c.442T>C (CLDN1) ENSP00000295522.3:p.Phe148Leu
ENST00000490800.1:n.401T>C (CLDN1)
NM_021101.4:c.442T>C (CLDN1) NP_066924.1:p.Phe148Leu
XR_001741069.1:n.203-4693A>G
NM_021101.5:c.442T>C (CLDN1) MANE Select NP_066924.1:p.Phe148Leu
NM_001378492.1:c.-445-4693A>G (CLDN16) NP_001365421.1:n.-445-4693A>G
NM_001378493.1:c.-279+19609A>G (CLDN16) NP_001365422.1:n.-279+19609A>G
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