Canonical Allele Identifier: CA355758473
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.190039902T>G (hg19) chr3:g.190322113T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322113T>G , CM000665.2:g.190322113T>G GRCh38
NC_000003.11:g.190039902T>G , CM000665.1:g.190039902T>G GRCh37
NC_000003.10:g.191522596T>G NCBI36
NG_021418.1:g.5334A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.94A>C (CLDN1) MANE Select ENSP00000295522.3:p.Ile32Leu
ENST00000295522.3:c.94A>C (CLDN1) ENSP00000295522.3:p.Ile32Leu
NM_021101.4:c.94A>C (CLDN1) NP_066924.1:p.Ile32Leu
NM_021101.5:c.94A>C (CLDN1) MANE Select NP_066924.1:p.Ile32Leu
NM_001378492.1:c.-279+7054T>G (CLDN16) NP_001365421.1:n.-279+7054T>G
NM_001378493.1:c.-279+31522T>G (CLDN16) NP_001365422.1:n.-279+31522T>G
Search 100 bp 5'
Search 100 bp 3'