Canonical Allele Identifier: CA243478

Gene: CLDN1 CLDN16

Linked Data

• ClinVar Variation Id: 196505
• ClinVar RCV Id: RCV000177324 ; RCV002516735
• dbSNP Id: rs142778400
• ExAC: 3:190027952 C / T
• gnomAD v2: 3-190027952-C-T
• gnomAD v3: 3-190310163-C-T
• gnomAD v4: 3-190310163-C-T
• MyVariant Identifiers: chr3:g.190027952C>T (hg19) ; chr3:g.190310163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190310163C>T , CM000665.2:g.190310163C>T	GRCh38
NC_000003.11:g.190027952C>T , CM000665.1:g.190027952C>T	GRCh37
NC_000003.10:g.191510646C>T	NCBI36
NG_021418.1:g.17284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.473+6G>A (CLDN1) MANE Select	ENSP00000295522.3:n.473+6G>A
ENST00000295522.3:c.473+6G>A (CLDN1)	ENSP00000295522.3:n.473+6G>A
NM_021101.4:c.473+6G>A (CLDN1)	NP_066924.1:n.473+6G>A
XR_001741069.1:n.203-4730C>T
NM_021101.5:c.473+6G>A (CLDN1) MANE Select	NP_066924.1:n.473+6G>A
NM_001378492.1:c.-445-4730C>T (CLDN16)	NP_001365421.1:n.-445-4730C>T
NM_001378493.1:c.-279+19572C>T (CLDN16)	NP_001365422.1:n.-279+19572C>T