Canonical Allele Identifier: CA437416675
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.190027990T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190310201T>C , CM000665.2:g.190310201T>C GRCh38
NC_000003.11:g.190027990T>C , CM000665.1:g.190027990T>C GRCh37
NC_000003.10:g.191510684T>C NCBI36
NG_021418.1:g.17246A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.441A>G (CLDN1) MANE Select ENSP00000295522.3:p.Glu147=
ENST00000295522.3:c.441A>G (CLDN1) ENSP00000295522.3:p.Glu147=
ENST00000490800.1:n.400A>G (CLDN1)
NM_021101.4:c.441A>G (CLDN1) NP_066924.1:p.Glu147=
XR_001741069.1:n.203-4692T>C
NM_021101.5:c.441A>G (CLDN1) MANE Select NP_066924.1:p.Glu147=
NM_001378492.1:c.-445-4692T>C (CLDN16) NP_001365421.1:n.-445-4692T>C
NM_001378493.1:c.-279+19610T>C (CLDN16) NP_001365422.1:n.-279+19610T>C