Canonical Allele Identifier: CA355755422
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310168C>G , CM000665.2:g.190310168C>G GRCh38
NC_000003.11:g.190027957C>G , CM000665.1:g.190027957C>G GRCh37
NC_000003.10:g.191510651C>G NCBI36
NG_021418.1:g.17279G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.473+1G>C (CLDN1) MANE Select ENSP00000295522.3:n.473+1G>C
ENST00000295522.3:c.473+1G>C (CLDN1) ENSP00000295522.3:n.473+1G>C
NM_021101.4:c.473+1G>C (CLDN1) NP_066924.1:n.473+1G>C
XR_001741069.1:n.203-4725C>G
NM_021101.5:c.473+1G>C (CLDN1) MANE Select NP_066924.1:n.473+1G>C
NM_001378492.1:c.-445-4725C>G (CLDN16) NP_001365421.1:n.-445-4725C>G
NM_001378493.1:c.-279+19577C>G (CLDN16) NP_001365422.1:n.-279+19577C>G