Canonical Allele Identifier: CA215126

Gene: CLDN1 CLDN16

Linked Data

• ClinVar Variation Id: 6089
• ClinVar RCV Id: RCV000006462
• dbSNP Id: rs864309517
• MyVariant Identifiers: chr3:g.190030691del (hg19) ; chr3:g.190312902del (hg38)
• PubMed: PMID:16619213

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190312902del , CM000665.2:g.190312902del	GRCh38
NC_000003.11:g.190030691del , CM000665.1:g.190030691del	GRCh37
NC_000003.10:g.191513385del	NCBI36
NG_021418.1:g.14545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.358del (CLDN1) MANE Select	ENSP00000295522.3:p.Val120SerfsTer15
ENST00000295522.3:c.358del (CLDN1)	ENSP00000295522.3:p.Val120SerfsTer15
ENST00000490800.1:n.317del (CLDN1)
NM_021101.4:c.358del (CLDN1)	NP_066924.1:p.Val120SerfsTer15
XR_001741069.1:n.203-1991del
NM_021101.5:c.358del (CLDN1) MANE Select	NP_066924.1:p.Val120SerfsTer15
NM_001378492.1:c.-445-1991del (CLDN16)	NP_001365421.1:n.-445-1991del
NM_001378493.1:c.-279+22311del (CLDN16)	NP_001365422.1:n.-279+22311del