Canonical Allele Identifier: CA437417681
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.190039939G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322150G>T , CM000665.2:g.190322150G>T GRCh38
NC_000003.11:g.190039939G>T , CM000665.1:g.190039939G>T GRCh37
NC_000003.10:g.191522633G>T NCBI36
NG_021418.1:g.5297C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.57C>A (CLDN1) MANE Select ENSP00000295522.3:p.Ile19=
ENST00000295522.3:c.57C>A (CLDN1) ENSP00000295522.3:p.Ile19=
NM_021101.4:c.57C>A (CLDN1) NP_066924.1:p.Ile19=
NM_021101.5:c.57C>A (CLDN1) MANE Select NP_066924.1:p.Ile19=
NM_001378492.1:c.-279+7091G>T (CLDN16) NP_001365421.1:n.-279+7091G>T
NM_001378493.1:c.-279+31559G>T (CLDN16) NP_001365422.1:n.-279+31559G>T