Canonical Allele Identifier: CA2753494
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 499338
ClinVar RCV Id: RCV000595533 RCV002532462
dbSNP Id: rs145299880
ExAC: 3:190026139 C / T
gnomAD v2: 3-190026139-C-T
gnomAD v3: 3-190308350-C-T
gnomAD v4: 3-190308350-C-T
MyVariant Identifiers: chr3:g.190026139C>T (hg19) chr3:g.190308350C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190308350C>T , CM000665.2:g.190308350C>T GRCh38
NC_000003.11:g.190026139C>T , CM000665.1:g.190026139C>T GRCh37
NC_000003.10:g.191508833C>T NCBI36
NG_021418.1:g.19097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.563G>A (CLDN1) MANE Select ENSP00000295522.3:p.Arg188Gln
ENST00000295522.3:c.563G>A (CLDN1) ENSP00000295522.3:p.Arg188Gln
NM_021101.4:c.563G>A (CLDN1) NP_066924.1:p.Arg188Gln
XR_001741069.1:n.203-6543C>T
NM_021101.5:c.563G>A (CLDN1) MANE Select NP_066924.1:p.Arg188Gln
NM_001378492.1:c.-445-6543C>T (CLDN16) NP_001365421.1:n.-445-6543C>T
NM_001378493.1:c.-279+17759C>T (CLDN16) NP_001365422.1:n.-279+17759C>T
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