Canonical Allele Identifier: CA201696
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 195367
ClinVar RCV Id: RCV000175932 RCV001579232 RCV001689713
dbSNP Id: rs9869263
ExAC: 3:190030680 A / G
gnomAD v2: 3-190030680-A-G
gnomAD v3: 3-190312891-A-G
gnomAD v4: 3-190312891-A-G
MyVariant Identifiers: chr3:g.190030680A>G (hg19) chr3:g.190312891A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190312891A>G , CM000665.2:g.190312891A>G GRCh38
NC_000003.11:g.190030680A>G , CM000665.1:g.190030680A>G GRCh37
NC_000003.10:g.191513374A>G NCBI36
NG_021418.1:g.14556T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295522.4:c.369T>C (CLDN1) MANE Select ENSP00000295522.3:p.Gly123=
ENST00000295522.3:c.369T>C (CLDN1) ENSP00000295522.3:p.Gly123=
ENST00000490800.1:n.328T>C (CLDN1)
NM_021101.4:c.369T>C (CLDN1) NP_066924.1:p.Gly123=
XR_001741069.1:n.203-2002A>G
NM_021101.5:c.369T>C (CLDN1) MANE Select NP_066924.1:p.Gly123=
NM_001378492.1:c.-445-2002A>G (CLDN16) NP_001365421.1:n.-445-2002A>G
NM_001378493.1:c.-279+22300A>G (CLDN16) NP_001365422.1:n.-279+22300A>G
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