Canonical Allele Identifier: CA2753570

Gene: CLDN1 CLDN16

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)

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