Canonical Allele Identifier: CA2753529

Gene: CLDN1 CLDN16

Linked Data

• ClinVar Variation Id: 2049783
• ClinVar RCV Id: RCV002914190
• dbSNP Id: rs377184401
• ExAC: 3:190027953 G / A
• gnomAD v2: 3-190027953-G-A
• gnomAD v3: 3-190310164-G-A
• gnomAD v4: 3-190310164-G-A
• COSMIC: COSM3730098
• MyVariant Identifiers: chr3:g.190027953G>A (hg19) ; chr3:g.190310164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190310164G>A , CM000665.2:g.190310164G>A	GRCh38
NC_000003.11:g.190027953G>A , CM000665.1:g.190027953G>A	GRCh37
NC_000003.10:g.191510647G>A	NCBI36
NG_021418.1:g.17283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.473+5C>T (CLDN1) MANE Select	ENSP00000295522.3:n.473+5C>T
ENST00000295522.3:c.473+5C>T (CLDN1)	ENSP00000295522.3:n.473+5C>T
NM_021101.4:c.473+5C>T (CLDN1)	NP_066924.1:n.473+5C>T
XR_001741069.1:n.203-4729G>A
NM_021101.5:c.473+5C>T (CLDN1) MANE Select	NP_066924.1:n.473+5C>T
NM_001378492.1:c.-445-4729G>A (CLDN16)	NP_001365421.1:n.-445-4729G>A
NM_001378493.1:c.-279+19573G>A (CLDN16)	NP_001365422.1:n.-279+19573G>A