Canonical Allele Identifier: CA437417731
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 3051909
ClinVar RCV Id: RCV003959803
MyVariant Identifiers: chr3:g.190039978C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322189C>G , CM000665.2:g.190322189C>G GRCh38
NC_000003.11:g.190039978C>G , CM000665.1:g.190039978C>G GRCh37
NC_000003.10:g.191522672C>G NCBI36
NG_021418.1:g.5258G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.18G>C (CLDN1) MANE Select ENSP00000295522.3:p.Leu6=
ENST00000295522.3:c.18G>C (CLDN1) ENSP00000295522.3:p.Leu6=
NM_021101.4:c.18G>C (CLDN1) NP_066924.1:p.Leu6=
NM_021101.5:c.18G>C (CLDN1) MANE Select NP_066924.1:p.Leu6=
NM_001378492.1:c.-279+7130C>G (CLDN16) NP_001365421.1:n.-279+7130C>G
NM_001378493.1:c.-279+31598C>G (CLDN16) NP_001365422.1:n.-279+31598C>G