Canonical Allele Identifier: CA2753644

Gene: CLDN1 CLDN16

Linked Data

• ClinVar Variation Id: 288149
• ClinVar RCV Id: RCV000316580 ; RCV003930147
• dbSNP Id: rs141961866
• ExAC: 3:190039955 G / A
• gnomAD v2: 3-190039955-G-A
• gnomAD v3: 3-190322166-G-A
• gnomAD v4: 3-190322166-G-A
• MyVariant Identifiers: chr3:g.190039955G>A (hg19) ; chr3:g.190322166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190322166G>A , CM000665.2:g.190322166G>A	GRCh38
NC_000003.11:g.190039955G>A , CM000665.1:g.190039955G>A	GRCh37
NC_000003.10:g.191522649G>A	NCBI36
NG_021418.1:g.5281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.41C>T (CLDN1) MANE Select	ENSP00000295522.3:p.Ala14Val
ENST00000295522.3:c.41C>T (CLDN1)	ENSP00000295522.3:p.Ala14Val
NM_021101.4:c.41C>T (CLDN1)	NP_066924.1:p.Ala14Val
NM_021101.5:c.41C>T (CLDN1) MANE Select	NP_066924.1:p.Ala14Val
NM_001378492.1:c.-279+7107G>A (CLDN16)	NP_001365421.1:n.-279+7107G>A
NM_001378493.1:c.-279+31575G>A (CLDN16)	NP_001365422.1:n.-279+31575G>A