Canonical Allele Identifier: CA2753614
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 289199
ClinVar RCV Id: RCV000393229 RCV003957502
dbSNP Id: rs145197251
ExAC: 3:190039801 T / C
gnomAD v2: 3-190039801-T-C
gnomAD v3: 3-190322012-T-C
gnomAD v4: 3-190322012-T-C
MyVariant Identifiers: chr3:g.190039801T>C (hg19) chr3:g.190322012T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322012T>C , CM000665.2:g.190322012T>C GRCh38
NC_000003.11:g.190039801T>C , CM000665.1:g.190039801T>C GRCh37
NC_000003.10:g.191522495T>C NCBI36
NG_021418.1:g.5435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.195A>G (CLDN1) MANE Select ENSP00000295522.3:p.Lys65=
ENST00000295522.3:c.195A>G (CLDN1) ENSP00000295522.3:p.Lys65=
NM_021101.4:c.195A>G (CLDN1) NP_066924.1:p.Lys65=
NM_021101.5:c.195A>G (CLDN1) MANE Select NP_066924.1:p.Lys65=
NM_001378492.1:c.-279+6953T>C (CLDN16) NP_001365421.1:n.-279+6953T>C
NM_001378493.1:c.-279+31421T>C (CLDN16) NP_001365422.1:n.-279+31421T>C
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