Canonical Allele Identifier: CA2753645
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs562249571
ExAC: 3:190039957 G / C
gnomAD v2: 3-190039957-G-C
gnomAD v3: 3-190322168-G-C
gnomAD v4: 3-190322168-G-C
MyVariant Identifiers: chr3:g.190039957G>C (hg19) chr3:g.190322168G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322168G>C , CM000665.2:g.190322168G>C GRCh38
NC_000003.11:g.190039957G>C , CM000665.1:g.190039957G>C GRCh37
NC_000003.10:g.191522651G>C NCBI36
NG_021418.1:g.5279C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.39C>G (CLDN1) MANE Select ENSP00000295522.3:p.Leu13=
ENST00000295522.3:c.39C>G (CLDN1) ENSP00000295522.3:p.Leu13=
NM_021101.4:c.39C>G (CLDN1) NP_066924.1:p.Leu13=
NM_021101.5:c.39C>G (CLDN1) MANE Select NP_066924.1:p.Leu13=
NM_001378492.1:c.-279+7109G>C (CLDN16) NP_001365421.1:n.-279+7109G>C
NM_001378493.1:c.-279+31577G>C (CLDN16) NP_001365422.1:n.-279+31577G>C
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