Canonical Allele Identifier: CA437416674
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.190027987G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310198G>A , CM000665.2:g.190310198G>A GRCh38
NC_000003.11:g.190027987G>A , CM000665.1:g.190027987G>A GRCh37
NC_000003.10:g.191510681G>A NCBI36
NG_021418.1:g.17249C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.444C>T (CLDN1) MANE Select ENSP00000295522.3:p.Phe148=
ENST00000295522.3:c.444C>T (CLDN1) ENSP00000295522.3:p.Phe148=
ENST00000490800.1:n.403C>T (CLDN1)
NM_021101.4:c.444C>T (CLDN1) NP_066924.1:p.Phe148=
XR_001741069.1:n.203-4695G>A
NM_021101.5:c.444C>T (CLDN1) MANE Select NP_066924.1:p.Phe148=
NM_001378492.1:c.-445-4695G>A (CLDN16) NP_001365421.1:n.-445-4695G>A
NM_001378493.1:c.-279+19607G>A (CLDN16) NP_001365422.1:n.-279+19607G>A