Canonical Allele Identifier: CA2753570
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 261404
ClinVar RCV Id: RCV000244049 RCV000892338
dbSNP Id: rs140846629
ExAC: 3:190030679 C / T
gnomAD v2: 3-190030679-C-T
gnomAD v3: 3-190312890-C-T
gnomAD v4: 3-190312890-C-T
COSMIC: COSM1537463
MyVariant Identifiers: chr3:g.190030679C>T (hg19) chr3:g.190312890C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190312890C>T , CM000665.2:g.190312890C>T GRCh38
NC_000003.11:g.190030679C>T , CM000665.1:g.190030679C>T GRCh37
NC_000003.10:g.191513373C>T NCBI36
NG_021418.1:g.14557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.370G>A (CLDN1) MANE Select ENSP00000295522.3:p.Ala124Thr
ENST00000295522.3:c.370G>A (CLDN1) ENSP00000295522.3:p.Ala124Thr
ENST00000490800.1:n.329G>A (CLDN1)
NM_021101.4:c.370G>A (CLDN1) NP_066924.1:p.Ala124Thr
XR_001741069.1:n.203-2003C>T
NM_021101.5:c.370G>A (CLDN1) MANE Select NP_066924.1:p.Ala124Thr
NM_001378492.1:c.-445-2003C>T (CLDN16) NP_001365421.1:n.-445-2003C>T
NM_001378493.1:c.-279+22299C>T (CLDN16) NP_001365422.1:n.-279+22299C>T
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