Canonical Allele Identifier: CA437416695
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

gnomAD v4: 3-190310234-G-T
MyVariant Identifiers: chr3:g.190028023G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310234G>T , CM000665.2:g.190310234G>T GRCh38
NC_000003.11:g.190028023G>T , CM000665.1:g.190028023G>T GRCh37
NC_000003.10:g.191510717G>T NCBI36
NG_021418.1:g.17213C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.408C>A (CLDN1) MANE Select ENSP00000295522.3:p.Ala136=
ENST00000295522.3:c.408C>A (CLDN1) ENSP00000295522.3:p.Ala136=
ENST00000490800.1:n.367C>A (CLDN1)
NM_021101.4:c.408C>A (CLDN1) NP_066924.1:p.Ala136=
XR_001741069.1:n.203-4659G>T
NM_021101.5:c.408C>A (CLDN1) MANE Select NP_066924.1:p.Ala136=
NM_001378492.1:c.-445-4659G>T (CLDN16) NP_001365421.1:n.-445-4659G>T
NM_001378493.1:c.-279+19643G>T (CLDN16) NP_001365422.1:n.-279+19643G>T
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